Rubinstein-Taybi syndrome: clinical features, genetic basis
Por um escritor misterioso
Last updated 21 setembro 2024
Background Rubinstein-Taybi syndrome (RSTS) is an extremely rare autosomal dominant genetic disease, with an estimated prevalence of one case per 125,000 live births. RSTS is characterized by typical facial features, microcephaly, broad thumbs and first toes, intellectual disability, and postnatal growth retardation. However, no standard diagnostic criteria are available for RSTS. In this review, we summarized the clinical features and genetic basis of RSTS and highlighted areas for future studies on an appropriate diagnostic protocol and follow-up care for RSTS. Discussion RSTS is primarily characterized by delayed growth in height and weight, microcephaly, dysmorphic facial features, and broad thumbs and big toe. Over 90% RSTS individuals with disabilities survive to adulthood, but healthcare for these patients is particularly complex, time-consuming, and costly. In addition, no standard diagnostic criteria and follow-up care guidelines are available for RSTS. It has been shown that mutations in the genes encoding the cyclic-AMP-regulated enhancer binding protein (CREBBP) and the E1A-binding protein p300 (EP300) contributed to the development of RSTS. Therefore, genetic tests are useful for the diagnosis of RSTS, although most RSTS cases are currently diagnosed based on clinical features. Summary The clinical features of RSTS have been extensively studied, which significantly contributes to the diagnosis of this extremely rare syndrome. However, the pathogenesis and genotype-phenotype associations of RSTS are largely unknown. Therefore, multicenter studies and international cooperation are highlighted for better understanding of this disease, establishing standard diagnostic criteria, and providing professional management and follow-up care of RSTS.
Rubinstein–Taybi syndrome European Journal of Human Genetics
Ultra-Rare Syndromes: The Example of Rubinstein-Taybi Syndrome
Frontiers Genetic Diagnosis of Rubinstein–Taybi Syndrome With
Frontiers Case Report: Low-Level Maternal Mosaicism of a Novel
Rubinstein-Taybi syndrome: clinical features, genetic basis
Novel heterozygous variants in the EP300 gene cause Rubinstein
Rubinstein-Taybi Syndrome
Cureus Rubinstein-Taybi Syndrome Associated with Pituitary
PDF) Rubinstein-Taybi syndrome: Clinical features, genetic basis
Genes, Free Full-Text
High frequency of copy number imbalances in Rubinstein–Taybi
Rubinstein–Taybi Syndrome in a Filipino Infant with a Novel CREBBP
Rubinstein–Taybi syndrome - Wikipedia
Recomendado para você
-
Rubinstein-Taybi Syndrome: A Complete Overview — DermNet21 setembro 2024
-
Facial features of Rubinstein-Taybi syndrome21 setembro 2024
-
Rubinstein- Taybi Syndrome Congenital Hand and Arm Differences21 setembro 2024
-
Rubinstein–Taybi syndrome European Journal of Human Genetics21 setembro 2024
-
Psychiatric Profile in Rubinstein-Taybi Syndrome21 setembro 2024
-
Rubinstein Taybi California21 setembro 2024
-
Síndrome de Rubinstein-Taybi - Dra. Deborah Kerches21 setembro 2024
-
Rubinstein-Taybi syndrome, medical and dental care for special needs patients: Clinical case report21 setembro 2024
-
3 de julio: “Día Mundial del Síndrome de Rubinstein Taybi (SRT)” – Facultad de Ciencias Médicas21 setembro 2024
-
Mosaic CREBBP mutation causes overlapping clinical features of Rubinstein–Taybi and Filippi syndromes21 setembro 2024
você pode gostar
-
God of War III Box Shot for PlayStation 3 - GameFAQs21 setembro 2024
-
Street Fighting Final Fighter – Apps on Google Play21 setembro 2024
-
Minecraft 1.19 Update will be the End Update, Confirmed! - Sherpa Land21 setembro 2024
-
Estúdio de Escape From Tarkov é acusado de perseguir streamers21 setembro 2024
-
Rockstar Games Launcher 1.0 - Download for PC Free21 setembro 2024
-
cyberpunk 2077 wallpaper Cyberpunk 2077, Cyberpunk art21 setembro 2024
-
2048 Feito no Microsoft Excel21 setembro 2024
-
2022 Disney Marvel Superheroes Werewolf By Night movie poster home decor cuadros Canvas Painting aesthetic room21 setembro 2024
-
Animate 3 Pro Online Help: Remove Transparency21 setembro 2024
-
Galinha Desenhos bonitos, Pintura em tecido, Desenho21 setembro 2024