Mosaic CREBBP mutation causes overlapping clinical features of Rubinstein– Taybi and Filippi syndromes
Por um escritor misterioso
Last updated 14 abril 2025


Frontiers Genetic Diagnosis of Rubinstein–Taybi Syndrome With

PDF) Clinical exome sequencing identifies novel CREBBP variants in

Figure 1 from Mutations in CKAP2L, the human homolog of the mouse

A Novel CREBBP in-Frame Deletion Variant in a Chinese Girl with

Mosaic CREBBP mutation causes overlapping clinical features of

Rubinstein–Taybi syndrome in diverse populations - Tekendo

PDF) Rubinstein-Taybi syndrome in diverse populations

Rubinstein–Taybi syndrome in diverse populations - Tekendo

Diagnosis and management of Cornelia de Lange syndrome: first

PDF) Clinical exome sequencing identifies novel CREBBP variants in

PDF] Multiple Dental and Skeletal Abnormalities in an Individual

Rubinstein–Taybi syndrome: clinical and molecular overview

Mosaic CREBBP mutation causes overlapping clinical features of
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