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The American Journal of Human Genetics, ISSN 0002-9297, 10/2017, Volume 101, Issue 4, pp. 552 - 563
The Sonic Hedgehog (SHH) pathway is a key signaling pathway orchestrating embryonic development, mainly of the CNS and limbs. In vertebrates, SHH signaling is... 
polymicrogyria | developmental defects | hypomorphic variants | congenital ataxia | ciliopathies | SUFU | Joubert syndrome | Sonic Hedgehog | molar tooth sign | GLI3 | SHH | SIGNALING PATHWAY | GENETICS & HEREDITY | PLANAR CELL POLARITY | CEREBELLAR DEVELOPMENT | GLI PROTEINS | MUTATIONS | KIF7 | MEDULLOBLASTOMA | PHENOTYPIC SPECTRUM | PRIMARY CILIA | Abnormalities, Multiple - pathology | Skin - metabolism | Humans | Zinc Finger Protein Gli3 | Hedgehog Proteins - metabolism | Male | Bone Diseases, Developmental - genetics | Mutation, Missense | Cerebellum - abnormalities | Bone Diseases, Developmental - pathology | Gene Expression Regulation, Developmental | Kruppel-Like Transcription Factors - metabolism | Kidney Diseases, Cystic - genetics | Craniofacial Abnormalities - pathology | Female | Child | Abnormalities, Multiple - genetics | Craniofacial Abnormalities - genetics | Repressor Proteins - metabolism | Skin - pathology | Fibroblasts - metabolism | Repressor Proteins - chemistry | Signal Transduction | Cells, Cultured | Repressor Proteins - genetics | Eye Abnormalities - genetics | Fibroblasts - pathology | Genes, Recessive | Sequence Analysis, DNA | Cerebellum - pathology | Kidney Diseases, Cystic - pathology | Nerve Tissue Proteins - metabolism | Eye Abnormalities - pathology | Retina - abnormalities | Retina - pathology | Cohort Studies | Embryonic development | Usage | Gene mutations | Analysis | Nucleotide sequencing | Research | Diagnosis | Children | Health aspects | DNA sequencing
Journal Article
European Journal of Human Genetics, ISSN 1018-4813, 09/2015, Volume 23, Issue 9, pp. 1165 - 1170
KAT6B sequence variants have been identified previously in both patients with the Say-Barber-Biesecker type of blepharophimosis mental retardation syndromes... 
BLEPHAROPHIMOSIS | DE-NOVO MUTATIONS | MENTAL-RETARDATION | CAUSE GENITOPATELLAR SYNDROME | BIOCHEMISTRY & MOLECULAR BIOLOGY | GENETICS & HEREDITY | OHDO SYNDROME | HISTONE ACETYLTRANSFERASE KAT6B | Scrotum - abnormalities | Kidney - pathology | Exons | Humans | Joint Instability - genetics | Child, Preschool | Histone Acetyltransferases - genetics | Joint Instability - pathology | Blepharophimosis - pathology | Male | Intellectual Disability - genetics | Exome | Blepharophimosis - genetics | Heart Defects, Congenital - genetics | Psychomotor Disorders - genetics | Congenital Hypothyroidism - diagnosis | DNA Mutational Analysis | Blepharophimosis - diagnosis | Congenital Hypothyroidism - genetics | Facies | Patella - abnormalities | Craniofacial Abnormalities - pathology | Female | Scrotum - pathology | Craniofacial Abnormalities - genetics | Severity of Illness Index | Diagnosis, Differential | Gene Expression | Joint Instability - diagnosis | Genetic Association Studies | Urogenital Abnormalities - diagnosis | Heart Defects, Congenital - pathology | Intellectual Disability - pathology | Psychomotor Disorders - pathology | Genotype | Patella - pathology | Phenotype | Urogenital Abnormalities - pathology | Craniofacial Abnormalities - diagnosis | Kidney - abnormalities | Intellectual Disability - diagnosis | Psychomotor Disorders - diagnosis | Congenital Hypothyroidism - pathology | Heart Defects, Congenital - diagnosis | Mutation | Urogenital Abnormalities - genetics | Pediatrics | Phenotypes | Congenital diseases | Statistical analysis | Splicing | Intellectual disabilities | Thyroid gland | Blepharophimosis | Gene deletion | Defects | Haploinsufficiency | Medicine | Genotype & phenotype | Hospitals | Molecular modelling | Clonal deletion | Genetics | Genotypes | Thyroid | Life Sciences | Human genetics
Journal Article
Clinical Genetics, ISSN 0009-9163, 02/2017, Volume 91, Issue 2, pp. 339 - 343
Say–Barber–Biesecker–Young–Simpson syndrome ( SBBYSS ) and genitopatellar syndrome ( GTPTS ) are clinically similar disorders with some overlapping features.... 
Say–Barber–Biesecker–Young–Simpson syndrome, SBBYSS | KAT6B | lysine acetyltransferase 6B | genitopatellar syndrome | KAT6B spectrum disorders | GTPTS | KAT6B‐related disorders | KAT6B-related disorders | BLEPHAROPHIMOSIS | HISTONE ACETYLTRANSFERASE | FEATURES | RETARDATION | Say-Barber-Biesecker-Young-Simpson syndrome, SBBYSS | GENETICS & HEREDITY | MUTATIONS | SPECTRUM | Abnormalities, Multiple - pathology | Scrotum - abnormalities | Kidney - pathology | Exons | Humans | Joint Instability - genetics | Child, Preschool | Histone Acetyltransferases - genetics | Joint Instability - pathology | Blepharophimosis - pathology | Intellectual Disability - genetics | Blepharophimosis - genetics | Heart Defects, Congenital - genetics | Psychomotor Disorders - genetics | Congenital Hypothyroidism - diagnosis | Blepharophimosis - diagnosis | Congenital Hypothyroidism - genetics | Facies | Patella - abnormalities | Craniofacial Abnormalities - pathology | Female | Scrotum - pathology | Abnormalities, Multiple - genetics | Craniofacial Abnormalities - genetics | Joint Instability - diagnosis | Urogenital Abnormalities - diagnosis | Heart Defects, Congenital - pathology | Intellectual Disability - pathology | Psychomotor Disorders - pathology | Patella - pathology | Phenotype | Urogenital Abnormalities - pathology | Craniofacial Abnormalities - diagnosis | Kidney - abnormalities | Abnormalities, Multiple - diagnosis | Intellectual Disability - diagnosis | Psychomotor Disorders - diagnosis | Congenital Hypothyroidism - pathology | Heart Defects, Congenital - diagnosis | Mutation | Urogenital Abnormalities - genetics | Genetic disorders | Multiprocessing | Lysine | Genetic aspects | Nucleotide sequencing | DNA sequencing | Genotype & phenotype
Journal Article
Human Mutation, ISSN 1059-7794, 11/2012, Volume 33, Issue 11, pp. 1520 - 1525
Genitopatellar syndrome (GPS) and Say–Barber–Biesecker–Young–Simpson syndrome (SBBYSS or Ohdo syndrome) have both recently been shown to be caused by distinct... 
MYST4 | database | genitopatellar syndrome | KAT6B | Ohdo syndrome | Database | Genitopatellar syndrome | BLEPHAROPHIMOSIS | PROTEIN | MENTAL-RETARDATION | ANOMALIES | PHENOTYPE | ACUTE MYELOID-LEUKEMIA | HISTONE ACETYLTRANSFERASE | MORF | GENETICS & HEREDITY | OHDO-SYNDROME | QUERKOPF | Abnormalities, Multiple - pathology | Sequence Deletion | Scrotum - abnormalities | Kidney - pathology | Blepharoptosis - genetics | Histone Acetyltransferases - chemistry | Blepharophimosis - enzymology | Humans | Kidney - enzymology | Psychomotor Disorders - enzymology | Urogenital Abnormalities - enzymology | Histone Acetyltransferases - genetics | Molecular Sequence Data | Blepharophimosis - pathology | Male | Intellectual Disability - genetics | Blepharophimosis - genetics | Heart Defects, Congenital - genetics | Psychomotor Disorders - genetics | Base Sequence | Blepharoptosis - enzymology | Heart Defects, Congenital - enzymology | Patella - abnormalities | Intellectual Disability - enzymology | Craniofacial Abnormalities - pathology | Female | Scrotum - pathology | Patella - enzymology | Abnormalities, Multiple - genetics | Craniofacial Abnormalities - genetics | Scrotum - enzymology | Genetic Association Studies | Heart Defects, Congenital - pathology | Intellectual Disability - pathology | Psychomotor Disorders - pathology | Haploinsufficiency | Patella - pathology | DNA - genetics | Urogenital Abnormalities - pathology | Kidney - abnormalities | Craniofacial Abnormalities - enzymology | Abnormalities, Multiple - enzymology | Mutation | Blepharoptosis - pathology | Databases, Nucleic Acid | Urogenital Abnormalities - genetics | Histones | Medical colleges | Congenital heart disease | Genetic disorders | Kidney diseases | Genes | Ohdo Syndrome | mutation database
Journal Article
Clinical Cancer Research, ISSN 1078-0432, 06/2017, Volume 23, Issue 12, pp. e83 - e90
In October 2016, the American Association for Cancer Research held a meeting of international childhood cancer predisposition syndrome experts to evaluate the... 
GENOTYPE-PHENOTYPE CORRELATION | RUBINSTEIN-TAYBI-SYNDROME | SOTOS-SYNDROME | ONCOLOGY | SCHINZEL-GIEDION-SYNDROME | CAUSE NOONAN | JUVENILE MYELOMONOCYTIC LEUKEMIA | GERM-CELL TUMOR | OF-FUNCTION MUTATIONS | CLINICAL-FEATURES | FACTOR-I TITF-1/NKX2.1 | Abnormalities, Multiple - pathology | Neoplastic Syndromes, Hereditary - pathology | Craniofacial Abnormalities - epidemiology | Sotos Syndrome - epidemiology | Colorectal Neoplasms - genetics | Humans | Brain Neoplasms - pathology | Nails, Malformed - pathology | Intellectual Disability - genetics | Noonan Syndrome - pathology | Neoplastic Syndromes, Hereditary - epidemiology | Rubinstein-Taybi Syndrome - genetics | Congenital Hypothyroidism - genetics | Abnormalities, Multiple - epidemiology | Craniofacial Abnormalities - pathology | Thyroid Nuclear Factor 1 - genetics | Neoplastic Syndromes, Hereditary - genetics | Abnormalities, Multiple - genetics | Craniofacial Abnormalities - genetics | Intellectual Disability - epidemiology | Colorectal Neoplasms - epidemiology | Hand Deformities, Congenital - epidemiology | Sotos Syndrome - genetics | Costello Syndrome - pathology | Sotos Syndrome - pathology | Risk Factors | Intellectual Disability - pathology | Brain Neoplasms - genetics | Rubinstein-Taybi Syndrome - pathology | Noonan Syndrome - genetics | Nails, Malformed - genetics | Costello Syndrome - epidemiology | Costello Syndrome - genetics | Hand Deformities, Congenital - genetics | Nails, Malformed - epidemiology | Rubinstein-Taybi Syndrome - epidemiology | Congenital Hypothyroidism - pathology | Noonan Syndrome - epidemiology | Mutation | Protein Tyrosine Phosphatase, Non-Receptor Type 11 - genetics | Colorectal Neoplasms - pathology | Congenital Hypothyroidism - epidemiology | Hand Deformities, Congenital - pathology | Brain Neoplasms - epidemiology | Brain | Physical examinations | Brain tumors | Health problems | Disorders | Health risks | Aciduria | Risk | Infants | Patients | K-Ras protein | Surveillance | Children | Health risk assessment | Thyroid transcription factor 1 | Metabolic disorders | Cancer
Journal Article
Pediatric Blood & Cancer, ISSN 1545-5009, 12/2018, Volume 65, Issue 12, pp. e27373 - n/a
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