The Rubinstein-Taybi syndrome: a report of two cases.

Por um escritor misterioso

Last updated 30 setembro 2024

The Rubinstein-Taybi syndrome: a report of two cases.

Rubinstein-Taybi syndrome: A report of two siblings with unreported cutaneous stigmata - Indian Journal of Dermatology, Venereology and Leprology

Rubinstein-Taybi Syndrome: A Complete Overview — DermNet

Rubinstein-Taybi syndrome in a Saudi boy with distinct features and variants in both the CREBBP and EP300 genes: a case report, BMC Medical Genetics

Novel heterozygous variants in the EP300 gene cause Rubinstein–Taybi syndrome 2: Reports from two Chinese children,Molecular Genetics & Genomic Medicine - X-MOL

PDF) Rubinstein-Taybi syndrome medical guidelines

Case report: a Chinese girl like atypical Rubinstein–Taybi syndrome caused by a novel heterozygous mutation of the EP300 gene, BMC Medical Genomics

Ocular symptoms in patients with Rubinstein-Taybi syndrome; 117 out of

Congenital glaucoma as a presenting feature of Rubinstein-Taybi syndrome in an infant with a novel pathogenic variant in the CREBBP gene

PDF) Trisomy 13 and Rubinstein-Taybi syndrome

Rubinstein-Taybi Syndrome: A case report

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