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 21 fevereiro 2025
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Hedgehog signaling update - Cohen Jr. - 2010 - American Journal of Medical Genetics Part A - Wiley Online Library
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PDF) The Social Security Administration's Compassionate Allowances Initiative: Condition Spotlight on Rubinstein–Taybi Syndrome
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Frontiers Genetic Mosaicism in a Group of Patients With Cornelia de Lange Syndrome
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Inheritance and variable expression in Rubinstein–Taybi syndrome - Bartsch - 2010 - American Journal of Medical Genetics Part A - Wiley Online Library
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Genetic Basis for Congenital Heart Disease: Revisited: A Scientific Statement From the American Heart Association
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PDF) Spectrum of CREBBP mutations in Indian patients with Rubinstein-Taybi syndrome
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Frontiers Case Report: Low-Level Maternal Mosaicism of a Novel CREBBP Variant Causes Recurrent Rubinstein-Taybi Syndrome in Two Siblings of a Chinese Family
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PDF) Genetic Mosaics and the Germ Line Lineage
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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
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Rubinstein–Taybi syndrome: clinical and molecular overview, Expert Reviews in Molecular Medicine
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Germline mosaicism in Rubinstein–Taybi syndrome - ScienceDirect
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Somatic and germ‐line mosaicism in Rubinstein–Taybi syndrome - Chiang - 2009 - American Journal of Medical Genetics Part A - Wiley Online Library

Rubinstein-Taybi Syndrome
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PDF) The Social Security Administration's Compassionate Allowances Initiative: Condition Spotlight on Rubinstein–Taybi Syndrome
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