Rubinstein-Taybi syndrome with agenesis of corpus callosum. - Abstract - Europe PMC

Disease-associated mosaic variation in clinical exome sequencing: a two-year pediatric tertiary care experience. - Abstract - Europe PMC

Rubinstein-Taybi syndrome with agenesis of corpus callosum. - Abstract - Europe PMC

Rubinstein-Taybi syndrome with agenesis of corpus callosum. - Abstract - Europe PMC

A case with Rubinstein-Taybi syndrome: A novel frameshift mutation in the CREBBP gene.

Haploinsufficiency of the Sin3/HDAC corepressor complex member SIN3B causes a syndromic intellectual disability/autism spectrum disorder. - Abstract - Europe PMC

Clinical, genetic and imaging findings identify new causes for corpus callosum development syndromes. - Abstract - Europe PMC

Emss 68524

A tailored approach to fusion transcript identification increases diagnosis of rare inherited disease. - Abstract - Europe PMC

Cutis marmorata telangiectatica congenita: a literature review. - Abstract - Europe PMC

Emss 68524