Rubinstein–Taybi syndrome associated with Chiari type I malformation caused by a large 16p13.3 microdeletion: A contiguous gene syndrome? - Wójcik - 2010 - American Journal of Medical Genetics Part A - Wiley Online Library
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Last updated 13 abril 2025


Genes, Free Full-Text

Rubinstein-Taybi Syndrome: spectrum of CREBBP mutations in Italian

Duplications of the critical Rubinstein–Taybi deletion region on

Rubinstein–Taybi syndrome: New neuroradiological and

Rubinstein–Taybi syndrome: clinical and molecular overview

Clinical, genetic and imaging findings identify new causes for

Dominant variants in the splicing factor PUF60 cause a

Rubinstein–Taybi syndrome in diverse populations - Tekendo

Rubinstein–Taybi syndrome: New neuroradiological and
Rubinstein-Taybi syndrome with scoliosis treated with single-stage

Clinical, genetic and imaging findings identify new causes for

PDF) Rubinstein-Taybi Syndrome Associated with Pituitary

PDF) Clinical, genetic and imaging findings identify new causes

Characterization of 14 novel deletions underlying Rubinstein–Taybi
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