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

Rubinstein–Taybi syndrome: New neuroradiological and neuropsychiatric insights from a multidisciplinary approach - Ajmone - 2018 - American Journal of Medical Genetics Part B: Neuropsychiatric Genetics - Wiley Online Library

Emss 68524

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

Kabuki Syndrome-Clinical Review with Molecular Aspects. - Abstract - Europe PMC

Emss 68524

Holoprosencephaly: signaling interactions between the brain and the face, the environment and the genes, and the phenotypic variability in animal models and humans. - Abstract - Europe PMC

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

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

PUF60 variants cause a syndrome of ID, short stature, microcephaly, coloboma, craniofacial, cardiac, renal and spinal features. - Abstract - Europe PMC

Bi-allelic TTC5 variants cause delayed developmental milestones and intellectual disability. - Abstract - Europe PMC