Somatic and germ‐line mosaicism in Rubinstein–Taybi syndrome - Chiang - 2009 - American Journal of Medical Genetics Part A - Wiley Online Library
Por um escritor misterioso
Last updated 20 maio 2024
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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