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 20 setembro 2024
Hedgehog signaling update - Cohen Jr. - 2010 - American Journal of Medical Genetics Part A - Wiley Online Library
PDF) First case report of inherited Rubinstein-Taybi syndrome associated with a novel EP300 variant
Germline mosaicism in Rubinstein–Taybi syndrome - ScienceDirect
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Multiple congenital anomalies‐intellectual disability (MCA‐ID) and neuroblastoma in a patient harboring a de novo 14q23.1q23.3 deletion - Lehalle - 2014 - American Journal of Medical Genetics Part A - Wiley Online Library
The missing link between genetic association and regulatory function
Box], Learn More (germline mosaicism) - GeneReviews® - NCBI Bookshelf
Somatic Mosaicism and Chromosomal Disorders
Benign and malignant tumors in Rubinstein–Taybi syndrome - Boot - 2018 - American Journal of Medical Genetics Part A - Wiley Online Library
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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