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Fetal and Pediatric Pathology, ISSN 1551-3815, 03/2017, Volume 36, Issue 2, pp. 130 - 138
Mutations in KAT6B gene are responsible for Say-Barber-Biesecker-Young-Simpson syndrome (SBBYSS) and genitopatellar syndrome (GPS), with most mutations... 
KAT6B gene | de novo mutation | short stature | targeted next generation sequencing | MENTAL-RETARDATION | DISORDERS | OHDO SYNDROME | MECHANISMS | PATHOLOGY | HISTONE ACETYLTRANSFERASE KAT6B | DELINEATION | PEDIATRICS | QUERKOPF | Abnormalities, Multiple - pathology | Scrotum - abnormalities | Kidney - pathology | Humans | Joint Instability - genetics | Child, Preschool | Histone Acetyltransferases - genetics | Joint Instability - pathology | Blepharophimosis - pathology | Male | 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 | Scrotum - pathology | Abnormalities, Multiple - genetics | Craniofacial Abnormalities - genetics | Joint Instability - diagnosis | Urogenital Abnormalities - diagnosis | Heart Defects, Congenital - pathology | Intellectual Disability - pathology | Psychomotor Disorders - pathology | Exons - genetics | Mutation - genetics | 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 | Codon, Nonsense - genetics | Urogenital Abnormalities - genetics | Index Medicus
Journal Article
The American Journal of Human Genetics, ISSN 0002-9297, 12/2012, Volume 91, Issue 6, pp. 998 - 1010
Journal Article
Congenital Anomalies, ISSN 0914-3505, 05/2017, Volume 57, Issue 3, pp. 86 - 88
Journal Article
Journal Article
Journal Article
Human Genetics, ISSN 0340-6717, 7/2014, Volume 133, Issue 7, pp. 939 - 949
Journal Article
American journal of medical genetics. Part A, ISSN 1552-4825, 2013, Volume 161A, Issue 4, pp. 884 - 888
Journal Article
Journal Article
AMERICAN JOURNAL OF MEDICAL GENETICS PART A, ISSN 1552-4825, 04/2014, Volume 164, Issue 4, pp. 950 - 957
Blepharophimosis-ptosis-epicanthus inversus syndrome (BPES) is an autosomal dominant disorder caused by mutations in FOXL2. We identified an individual with... 
NOONAN SYNDROME | BPES | MENTAL-RETARDATION | ptosis | OHDO SYNDROME | FOXL2 | HISTONE ACETYLTRANSFERASE KAT6B | AUTISM SPECTRUM DISORDERS | KABUKI SYNDROME | blepharophimosis | whole exome sequencing | DE-NOVO MUTATIONS | KAT6B | CAUSE GENITOPATELLAR SYNDROME | GENETICS & HEREDITY | epicanthus inversus
Journal Article
Journal Article
Clinical Genetics, ISSN 0009-9163, 11/2018, Volume 94, Issue 5, pp. 450 - 456
MED12 is a member of the large Mediator complex that controls cell growth, development, and differentiation. Mutations in MED12 disrupt neuronal gene... 
MED12 | FG syndrome | Lujan‐Fryns syndrome | molecular modeling | Ohdo syndrome | X‐linked intellectual disability | X-linked intellectual disability | Lujan-Fryns syndrome | Medicine, Experimental | Medical research | Gene expression | Analysis | Prognathism | Molecular modelling | Blood cells | Index Medicus
Journal Article
CLINICAL GENETICS, ISSN 0009-9163, 11/2018, Volume 94, Issue 5, pp. 450 - 456
MED12 is a member of the large Mediator complex that controls cell growth, development, and differentiation. Mutations in MED12 disrupt neuronal gene... 
MED12 | molecular modeling | Lujan-Fryns syndrome | Ohdo syndrome | MUTATION | GENETICS & HEREDITY | FG syndrome | X-linked intellectual disability
Journal Article
Journal of Pediatric Genetics, ISSN 2146-4596, 09/2017, Volume 6, Issue 3, pp. 198 - 204
Abstract Ohdo syndrome–Maat-Kievit-Brunner (OSMKB) type is an X-linked recessive disorder, a subtype of blepharophimosis-intellectual disability syndromes... 
Case Report | congenital heart disease | high-place winged scapula | Ohdo syndrome–Maat-Kievit-Brunner type | blepharophimosis | intellectual disability
Journal Article
Molecular Syndromology, ISSN 1661-8769, 01/2017, Volume 8, Issue 1, pp. 24 - 29
Say-Barber/Biesecker/Young-Simpson syndrome (SBBYSS; OMIM 603736) is a rare syndrome with multiple congenital anomalies/malformations. The clinical diagnosis... 
Young-Simpson syndrome | KAT6B | Epicanthus inversus | Whole-exome sequencing | Ohdo syndrome | Blepharophimosis | Developmental delay | Original
Journal Article
Clinical Case Reports, ISSN 2050-0904, 08/2016, Volume 4, Issue 8, pp. 824 - 830
3q26.33‐3q27.2 microdeletion can be classified as a clinical entity characterized by intrauterine growth retardation, feeding problems in infancy, short... 
3q27.3 microdeletion | 3q26.33‐3q27.2 microdeletion | blepharophimosis | intellectual disability | Ohdo syndrome | Intellectual disabilities | Genes | Teeth | Genomes | Hearing impairment | Patients | Habitus | Proteins | Genotype & phenotype | Ostomy | Cooperation | Mouth | Ears & hearing |