Rubinstein-Taybi syndrome with agenesis of corpus callosum. - Abstract - Europe PMC
Por um escritor misterioso
Last updated 10 abril 2025


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

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

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

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

Emss 68524

File:Rubinstein-Taybi Syndrome1.jpg - Wikipedia

Epigenetic mechanisms of Rubinstein-Taybi syndrome. - Abstract - Europe PMC

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

Neuronal Cytoskeleton in Intellectual Disability: From Systems Biology and Modeling to Therapeutic Opportunities. - Abstract - Europe PMC

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