Mosaic CREBBP mutation causes overlapping clinical features of
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Mosaic CREBBP mutation causes overlapping clinical features of

Cancers, Free Full-Text

Identification of USP9X as a leukemia susceptibility gene

Rubinstein–Taybi syndrome: clinical and molecular overview

Truncating SRCAP variants outside the Floating-Harbor syndrome

Short Report European Journal of Human Genetics

Genetics and therapy for pediatric eye diseases - eBioMedicine

High frequency of mosaic CREBBP deletions in Rubinstein–Taybi

Interplay between chromosomal alterations and gene mutations

Rubinstein-Taybi Syndrome: spectrum of CREBBP mutations in Italian

Leveraging the Mendelian disorders of the epigenetic machinery to

Truncating SRCAP variants outside the Floating-Harbor syndrome
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