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American Journal of Medical Genetics Part A, ISSN 1552-4825, 02/2018, Volume 176, Issue 2, pp. 455 - 459
KAT6B sequence variants have been identified in both patients with the Say-Barber-Biesecker-Young-Simpson syndrome (SBBYSS) and in the genitopatellar syndrome... 
skeletal anomalies | related disorders | KAT6B | focused exome sequencing | KAT6B-related disorders | RETARDATION | GENETICS & HEREDITY | HISTONE ACETYLTRANSFERASE | MUTATIONS | PHENOTYPIC SPECTRUM | Patella - physiopathology | Scrotum - abnormalities | Scrotum - physiopathology | Exons | Humans | Joint Instability - genetics | Histone Acetyltransferases - genetics | Craniofacial Abnormalities - physiopathology | Intellectual Disability - genetics | Blepharophimosis - genetics | Heart Defects, Congenital - genetics | Psychomotor Disorders - genetics | Congenital Hypothyroidism - genetics | Facies | Patella - abnormalities | Female | Psychomotor Disorders - physiopathology | Urogenital Abnormalities - physiopathology | Child | Abnormalities, Multiple - genetics | Craniofacial Abnormalities - genetics | Kidney - physiopathology | Haploinsufficiency - genetics | Genetic Association Studies | Congenital Hypothyroidism - physiopathology | Abnormalities, Multiple - physiopathology | Intellectual Disability - physiopathology | Phenotype | Kidney - abnormalities | Alleles | Heart Defects, Congenital - physiopathology | Mutation | Joint Instability - physiopathology | Blepharophimosis - physiopathology | Urogenital Abnormalities - genetics | Medical genetics | Intellectual disabilities | Genotypes | Haploinsufficiency | Index Medicus
Journal Article
American Journal of Medical Genetics Part A, ISSN 1552-4825, 12/2013, Volume 161, Issue 12, pp. 3121 - 3125
We present a Hispanic male with the clinical and molecular diagnosis of Simpson-Golabi-Behmel syndrome (SGBS). The patient was born with multiple anomalies not... 
craniosynostosis | adrenal insufficiency | coronal synostosis | glypican 3 | hypospadias | prostatic utricle | Simpson–Golabi–Behmel syndrome | ambiguous genitalia | large for gestational age | diaphragmatic hernia | Coronal synostosis | Diaphragmatic hernia | Simpson-Golabi-Behmel syndrome | Large for gestational age | Adrenal insufficiency | Glypican 3 | Craniosynostosis | Hypospadias | Prostatic utricle | Ambiguous genitalia | OVERGROWTH SYNDROME | CONGENITAL DIAPHRAGMATIC-HERNIA | GLYPICAN-3 | REFLUX | GENE | MOUSE MODEL | GENETICS & HEREDITY | OVERLAP | Scrotum - abnormalities | Frameshift Mutation | Scrotum - physiopathology | Urethral Diseases - genetics | Craniosynostoses - complications | Humans | Gigantism - physiopathology | Genetic Diseases, X-Linked - complications | Intellectual Disability - complications | Male | Craniosynostoses - physiopathology | Arrhythmias, Cardiac - physiopathology | Gigantism - complications | Intellectual Disability - genetics | Heart Defects, Congenital - genetics | Disorders of Sex Development - complications | Adult | Female | Genetic Diseases, X-Linked - genetics | Disorders of Sex Development - physiopathology | Prostate - physiopathology | Abnormalities, Multiple - genetics | Arrhythmias, Cardiac - genetics | Genetic Diseases, X-Linked - physiopathology | Infant, Newborn | Craniosynostoses - genetics | Penis - physiopathology | Urethral Diseases - physiopathology | Disorders of Sex Development - genetics | Glypicans - genetics | Abnormalities, Multiple - physiopathology | Genetic Diseases, X-Linked - diagnosis | Gigantism - diagnosis | Intellectual Disability - physiopathology | Heart Defects, Congenital - complications | Saccule and Utricle - physiopathology | Urethral Diseases - complications | Gigantism - genetics | Intellectual Disability - diagnosis | Heart Defects, Congenital - diagnosis | Arrhythmias, Cardiac - complications | Arrhythmias, Cardiac - diagnosis | Heart Defects, Congenital - physiopathology | Pathology, Molecular | Penis - abnormalities | Genetic aspects | Corticosteroids | Nonsense mutation | Frameshift mutation | Insertion | Stop codon | Hydrocortisone | Gene deletion | Testosterone | Clonal deletion | Furin | Diagnosis | Mutation | Utricle | Index Medicus | Amino acids
Journal Article
Journal Article
Journal Article
Journal of Thermal Biology, ISSN 0306-4565, 02/2016, Volume 56, pp. 55 - 58
Journal Article
Journal Article