Mosaic CREBBP mutation causes overlapping clinical features of Rubinstein–Taybi and Filippi syndromes

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Mosaic CREBBP mutation causes overlapping clinical features of Rubinstein–Taybi  and Filippi syndromes
William Newman
Mosaic CREBBP mutation causes overlapping clinical features of Rubinstein–Taybi  and Filippi syndromes
Frontiers Case Report: Low-Level Maternal Mosaicism of a Novel CREBBP Variant Causes Recurrent Rubinstein-Taybi Syndrome in Two Siblings of a Chinese Family
Mosaic CREBBP mutation causes overlapping clinical features of Rubinstein–Taybi  and Filippi syndromes
PDF) Rubinstein-Taybi syndrome in diverse populations
Mosaic CREBBP mutation causes overlapping clinical features of Rubinstein–Taybi  and Filippi syndromes
Opposing Effects of CREBBP Mutations Govern the Phenotype of Rubinstein-Taybi Syndrome and Adult SHH Medulloblastoma - ScienceDirect
Mosaic CREBBP mutation causes overlapping clinical features of Rubinstein–Taybi  and Filippi syndromes
Research articles European Journal of Human Genetics
Mosaic CREBBP mutation causes overlapping clinical features of Rubinstein–Taybi  and Filippi syndromes
A case with Rubinstein-Taybi syndrome: A novel frameshift mutation in the CREBBP gene.
Mosaic CREBBP mutation causes overlapping clinical features of Rubinstein–Taybi  and Filippi syndromes
PDF) Clinical exome sequencing identifies novel CREBBP variants in 18 Chinese Rubinstein–Taybi Syndrome kids with high frequency of polydactyly
Mosaic CREBBP mutation causes overlapping clinical features of Rubinstein–Taybi  and Filippi syndromes
Recombinant Human CREB-binding protein(CREBBP),partial - Cusabio
Mosaic CREBBP mutation causes overlapping clinical features of Rubinstein–Taybi  and Filippi syndromes
High frequency of mosaic CREBBP deletions in Rubinstein–Taybi syndrome patients and mapping of somatic and germ-line breakpoints - ScienceDirect
Mosaic CREBBP mutation causes overlapping clinical features of Rubinstein–Taybi  and Filippi syndromes
Frontiers Case Report: Low-Level Maternal Mosaicism of a Novel CREBBP Variant Causes Recurrent Rubinstein-Taybi Syndrome in Two Siblings of a Chinese Family
Mosaic CREBBP mutation causes overlapping clinical features of Rubinstein–Taybi  and Filippi syndromes
Fetal phenotype of Rubinstein‐Taybi syndrome caused by CREBBP mutations - Van‐Gils - 2019 - Clinical Genetics - Wiley Online Library
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