Rubinstein-Taybi Syndrome: A case report
Por um escritor misterioso
Last updated 22 dezembro 2024
Congenital glaucoma as a presenting feature of Rubinstein-Taybi syndrome in an infant with a novel pathogenic variant in the CREBBP gene
A case with Rubinstein-Taybi syndrome: A novel frameshift mutation in the CREBBP gene.
Illustrations showing postoperative findings at 52 mont
Rubinstein-Taybi syndrome associated with breast cancer — a case report
High frequency of copy number imbalances in Rubinstein–Taybi patients negative to CREBBP mutational analysis
Frontiers Case Report: Low-Level Maternal Mosaicism of a Novel CREBBP Variant Causes Recurrent Rubinstein-Taybi Syndrome in Two Siblings of a Chinese Family
PDF) Rubinstein-Taybi syndrome medical guidelines
Ocular features in Rubinstein-Taybi syndrome: investigation of 24 patients and review of the literature
Bibliography on Rubinstein‐Taybi syndrome - Hennekam - 1990 - American Journal of Medical Genetics - Wiley Online Library
The Rubinstein-Taybi syndrome: a report of two cases.
PDF) Nephrotic syndrome in a case of Rubinstein Taybi syndrome: a rare case report
Rubinstein-Taybi Syndrome 2 disease: Malacards - Research Articles, Drugs, Genes, Clinical Trials
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