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

Congenital basis of posterior fossa anomalies. - Abstract - Europe PMC

Practice parameter: Evaluation of the child with microcephaly (an evidence-based review): report of the Quality Standards Subcommittee of the American Academy of Neurology and the Practice Committee of the Child Neurology Society.

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

Reprogramming of the epigenome in neurodevelopmental disorders. - Abstract - Europe PMC

Rubinstein-Taybi Syndrome 2 disease: Malacards - Research Articles, Drugs, Genes, Clinical Trials

Rubinstein–Taybi syndrome: clinical and molecular overview, Expert Reviews in Molecular Medicine

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

PDF) Clinical, genetic and imaging findings identify new causes for corpus callosum development syndromes

Emss 68524

Rubinstein–Taybi syndrome: clinical and molecular overview, Expert Reviews in Molecular Medicine

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