Disease: Blepharophimosis syndrome Ohdo type
- <em>MED12</em>-Related (Neuro)Developmental Disorders: A Question of Causality
- <em>MED12</em>-Related Disorders
- A case of severe mental retardation with blepharophimosis, ptosis, microphthalmia, microcephalus, hypogonadism and short stature--the difference from Ohdo blepharophimosis syndrome
- A clinical and genetic study of the Say/Barber/Biesecker/Young-Simpson type of Ohdo syndrome
- A female patient with X-linked Ohdo syndrome of the Maat-Kievit-Brunner phenotype caused by a novel variant of MED12
- A recurrent synonymous KAT6B mutation causes Say-Barber-Biesecker/Young-Simpson syndrome by inducing aberrant splicing
- Autism spectrum disorder in Say-Barber-Biesecker-Young-Simpson syndrome
- Beyond Ohdo syndrome: A familial missense mutation broadens the MED12 spectrum
- Blepharophimosis-mental retardation (BMR) syndromes: A proposed clinical classification of the so-called Ohdo syndrome, and delineation of two new BMR syndromes, one X-linked and one autosomal recessive
- Blepharophimosis, short humeri, developmental delay and hirschsprung disease: expanding the phenotypic spectrum of MED12 mutations
- Clinical and neurocognitive characterization of a family with a novel MED12 gene frameshift mutation
- Clinical heterogeneity of polish patients with KAT6B-related disorder
- Clinical Variability in Familial X-Linked Ohdo Syndrome-Maat-Kievit-Brunner Type with <em>MED12</em> Mutation
- De novo KAT6B mutation causes Say-Barber-Biesecker-Young-Simpson variant of Ohdo syndrome in an Iranian boy: a case report
- De novo mutations of the gene encoding the histone acetyltransferase KAT6B in two patients with Say-Barber/Biesecker/Young-Simpson syndrome
- Maternal intrachromosomal insertional translocation leads to recurrent 1q21.3q23.3 deletion in two siblings
- MED12 missense mutation in a three-generation family. Clinical characterization of MED12-related disorders and literature review
- MED12 Mutation in Two Families with X-Linked Ohdo Syndrome
- MED12-related XLID disorders are dose-dependent of immediate early genes (IEGs) expression
- Mutations in KAT6B, encoding a histone acetyltransferase, cause Genitopatellar syndrome
- Mutations in MED12 cause X-linked Ohdo syndrome
- Qualitative and quantitative analysis of MED12 c.887G>A causing both missense and splicing variants in X-linked Ohdo syndrome
- The KAT6B-related disorders genitopatellar syndrome and Ohdo/SBBYS syndrome have distinct clinical features reflecting distinct molecular mechanisms