Rubinstein‐Taybi syndrome in Chinese population with four novel mutations - Yu - 2021 - American Journal of Medical Genetics Part A - Wiley Online Library
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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
American Journal of Medical Genetics Part A: Vol 185, No 1
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