Rubinstein–Taybi Syndrome in a Filipino Infant with a Novel CREBBP
Por um escritor misterioso
Last updated 13 outubro 2024
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 in an Indian Child due to EP300 Gene
Location of the 14 causative CREBBP mutations found in this study
Rubinstein–Taybi syndrome: clinical and molecular overview
Pediatric on Squares on X: Rubinstein Taybi Syndrome #Pediatric
PDF) Rubinstein-Taybi syndrome medical guidelines
PDF) Facial dysmorphism, skeletal anomalies, congenital glucoma
Fetal phenotype of Rubinstein‐Taybi syndrome caused by CREBBP
PDF) Rubinstein-Taybi syndrome medical guidelines
First case of Rubinstein–Taybi syndrome with desquamation
Ultra-Rare Syndromes: The Example of Rubinstein-Taybi Syndrome
Rubinstein–Taybi syndrome - Wikiwand
PDF) Epigenetic Mechanisms of Rubinstein–Taybi Syndrome
Recomendado para você
você pode gostar