Somatic and germ‐line mosaicism in Rubinstein–Taybi syndrome - Chiang - 2009 - American Journal of Medical Genetics Part A - Wiley Online Library
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Last updated 29 março 2025


Evaluation of somatic and/or germline mosaicism in congenital malformation of the eye

Genetic Mosaicism as a Cause of Inborn Errors of Immunity

Mosaic CREBBP mutation causes overlapping clinical features of Rubinstein– Taybi and Filippi syndromes

Frontiers Case Report: Low-Level Maternal Mosaicism of a Novel CREBBP Variant Causes Recurrent Rubinstein-Taybi Syndrome in Two Siblings of a Chinese Family

PDF) Rubinstein-Taybi Syndrome: A Model of Epigenetic Disorder

PDF) Case Report: Low-Level Maternal Mosaicism of a Novel CREBBP Variant Causes Recurrent Rubinstein-Taybi Syndrome in Two Siblings of a Chinese Family

Hedgehog signaling update - Cohen Jr. - 2010 - American Journal of Medical Genetics Part A - Wiley Online Library

Journal of Cellular Physiology, Cell Biology Journal

PDF) Spectrum of CREBBP mutations in Indian patients with Rubinstein-Taybi syndrome
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