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.
Rubinstein–Taybi syndrome: clinical and molecular overview
PDF) Rubinstein-Taybi syndrome medical guidelines
Fourteen causative CREBBP mutations detected by direct sequencing
Rubinstein-Taybi Syndrome: Child Characteristics and Parental
EP300‐related Rubinstein–Taybi syndrome: Highlighted rare
A novel CREBBP mutation and its phenotype in a case of Rubinstein
A novel CREBBP mutation and its phenotype in a case of Rubinstein
Full article: 8th Excellence in Pediatrics Conference - 2016 Book
Rubinstein–Taybi syndrome in diverse populations - Tekendo
Location of the 14 causative CREBBP mutations found in this study
de
por adulto (o preço varia de acordo com o tamanho do grupo)
