Rubinstein-Taybi Syndrome OMIM# 180849 - FDNA™
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Descrição
Rubinstein‐Taybi syndrome in Chinese population with four novel
IJMS, Free Full-Text
PDF) FISH studies in 45 patients with Rubinstein-Taybi syndrome
Rubinstein-Taybi syndrome: clinical features, genetic basis
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Mosaic CREBBP mutation causes overlapping clinical features of
PDF) FISH studies in 45 patients with Rubinstein-Taybi syndrome
CBP-HSF2 structural and functional interplay in Rubinstein-Taybi
PDF) Clinical exome sequencing identifies novel CREBBP variants in
Clinical exome sequencing identifies novel CREBBP variants in 18
Frontiers Case Report: Low-Level Maternal Mosaicism of a Novel
Frontiers Case Report: Low-Level Maternal Mosaicism of a Novel
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