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 01 fevereiro 2025
Genes, Free Full-Text
PDF) Genetic Mosaics and the Germ Line Lineage
PDF) Rubinstein-Taybi syndrome: Clinical features, genetic basis, diagnosis, and management
Frontiers Case Report: Low-Level Maternal Mosaicism of a Novel CREBBP Variant Causes Recurrent Rubinstein-Taybi Syndrome in Two Siblings of a Chinese Family
Evaluation of somatic and/or germline mosaicism in congenital malformation of the eye
The behavioral phenotype of Rubinstein–Taybi syndrome: A scoping review of the literature - Awan - 2022 - American Journal of Medical Genetics Part A - Wiley Online Library
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
Box], Learn More (germline mosaicism) - GeneReviews® - NCBI Bookshelf
Rubinstein–Taybi syndrome: clinical and molecular overview, Expert Reviews in Molecular Medicine
Identification of 22q11.2 deletion in a patient with schizophrenia and clinically diagnosed Rubinstein–Taybi syndrome - Nagai - 2022 - Psychiatry and Clinical Neurosciences Reports - Wiley Online Library
Inheritance and variable expression in Rubinstein–Taybi syndrome - Bartsch - 2010 - American Journal of Medical Genetics Part A - Wiley Online Library
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
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