Rubinstein–Taybi Syndrome in a Filipino Infant with a Novel CREBBP
Por um escritor misterioso
Descrição
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.
Location of the 14 causative CREBBP mutations found in this study
genetic test report depicting disease and inheritance
A novel CREBBP mutation and its phenotype in a case of Rubinstein
Fetal phenotype of Rubinstein‐Taybi syndrome caused by CREBBP
Epigenetic mechanisms of Rubinstein-Taybi syndrome. - Abstract
Rubinstein–Taybi syndrome - Wikiwand
Rubinstein–Taybi syndrome in diverse populations - Tekendo
File:Rubinstein-Taybi Syndrome2.jpg - Wikimedia Commons
Fetal phenotype of Rubinstein‐Taybi syndrome caused by CREBBP
Fourteen causative CREBBP mutations detected by direct sequencing
PDF) Rubinstein–Taybi Syndrome in a Filipino Infant with a Novel
de
por adulto (o preço varia de acordo com o tamanho do grupo)
