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 11 novembro 2024
Clinical, genetic and imaging findings identify new causes for
PDF) Clinical, genetic and imaging findings identify new causes
Exon deletions of the EP300 and CREBBP genes in two children with
Rubinstein–Taybi syndrome: New neuroradiological and
Molecular analysis of the CBP gene in 60 patients with Rubinstein
A novel CREBBP mutation and its phenotype in a case of Rubinstein
Rubinstein–Taybi syndrome: clinical and molecular overview
Rubinstein-Taybi syndrome in a Saudi boy with distinct features
Microdeletions and mutations of CREBBP (CBP) gene can cause
Rubinstein–Taybi syndrome associated with Chiari type I
Rubinstein-Taybi Syndrome: spectrum of CREBBP mutations in Italian
PDF) Rubinstein-Taybi syndrome: Clinical features, genetic basis
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PDF) Clinical, genetic and imaging findings identify new causes
Rubinstein–Taybi syndrome: New neuroradiological and
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