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 16 abril 2025


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

Journal of Cellular Physiology, Cell Biology Journal

Mosaic abnormalities of the skin: review and guidelines from the European Reference Network for rare skin diseases - Kinsler - 2020 - British Journal of Dermatology - 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

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

PDF) Genetic Mosaics and the Germ Line Lineage

Unexpected Findings Reveal Genetic Mosaicism as Possible Early Marker for Disease, Linkage Newslette - NCI

The missing link between genetic association and regulatory function

PDF) 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 (CREBBP, EP300) Martine van Belzen and Oliver Bartsch

Box], Learn More (germline mosaicism) - GeneReviews® - NCBI Bookshelf

A genomic view of mosaicism and human disease
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