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 19 janeiro 2025
Clinical exome sequencing identifies novel CREBBP variants in 18 Chinese Rubinstein–Taybi Syndrome kids with high frequency of polydactyly - Yu - 2019 - Molecular Genetics & Genomic Medicine - Wiley Online Library
PDF) Rubinstein-Taybi Syndrome: A Model of Epigenetic Disorder
Inheritance and variable expression in Rubinstein–Taybi syndrome - Bartsch - 2010 - American Journal of Medical Genetics Part A - Wiley Online Library
Genes, Free Full-Text
Rubinstein-Taybi Syndrome
Somatic and germ‐line mosaicism in Rubinstein–Taybi syndrome - Chiang - 2009 - American Journal of Medical Genetics Part A - Wiley Online Library
Mechanisms and consequences of somatic mosaicism in humans
Two adults with Rubinstein–Taybi syndrome with mild mental retardation, glaucoma, normal growth and skull circumference, and camptodactyly of third fingers - Wieczorek - 2009 - American Journal of Medical Genetics Part A
Germline mosaicism in Rubinstein–Taybi syndrome - ScienceDirect
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