Rubinstein–Taybi Syndrome in a Filipino Infant with a Novel CREBBP
Por um escritor misterioso
Last updated 07 janeiro 2025
Rubinstein–Taybi syndrome (RSTS) is a rare genetic disorder characterized by dysmorphic facial features, broad thumbs and halluces, intellectual disability, and postnatal growth retardation. This report presents a male infant with microcephaly and characteristic facial features, namely, low anterior hairline, hirsutism, thin upper lip and micrognathia, broad thumbs and first toes, cryptorchidism, recurrent pneumonia, developmental delay, and growth retardation. Genetic testing showed a novel pathogenic variant in the <i>CREBBP</i> gene which is consistent with the clinical diagnosis of RSTS.
PDF) Rubinstein-Taybi syndrome medical guidelines
PDF) Rubinstein-Taybi syndrome medical guidelines
Full article: 8th Excellence in Pediatrics Conference - 2016 Book
PDF) FISH studies in 45 patients with Rubinstein-Taybi syndrome
A case with Rubinstein-Taybi syndrome: A novel frameshift mutation
A novel CREBBP mutation and its phenotype in a case of Rubinstein
Rubinstein-Taybi Syndrome OMIM# 180849 - FDNA™
Rubinstein-Taybi Syndrome: A Complete Overview — DermNet
Location of the 14 causative CREBBP mutations found in this study
Rubinstein–Taybi Syndrome in a Filipino Infant with a Novel CREBBP
Genes, Free Full-Text
Pediatric on Squares on X: Rubinstein Taybi Syndrome #Pediatric
Rubinstein Taybi Syndrome: Most Up-to-Date Encyclopedia, News
A novel CREBBP mutation and its phenotype in a case of Rubinstein
Rubinstein-Taybi Syndrome 1
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