Cureus Barrett's Esophagus in Rubinstein-Taybi Syndrome
Por um escritor misterioso
Last updated 22 setembro 2024
Rubinstein-Taybi syndrome (RSTS; Online Mendelian Inheritance in Man® [OMIM®] #180849, #613684; Orpha: 783 ) is a rare plurimalformative autosomal dominant genetic disorder that affects one in 100,000-125,000 newborns with equal male and female distribution. It is characterized by distinctive facial features, short stature, broad and often angulated thumbs and halluces, and moderate-to-severe intellectual disability. In addition to ocular, cardiac, renal, endocrinologic, neurological, and psychomotor abnormalities, RSTS individuals can present with several gastrointestinal symptoms such as feeding difficulties, gastroesophageal reflux, and constipation. Currently, therapeutic strategies for RSTS involves a multi-disciplinary approach focusing mainly on symptomatic management. Here, we present a case of young-onset Barrett's esophagus in a patient with Rubinstein-Taybi syndrome.
The 58th Case of Toriello-Carey Syndrome: The Association with Colpocephaly on Brain Magnetic Resonance Imaging and Computerized Tomography Scan
Analysis of mutations within the intron20 splice donor site of CREBBP in patients with and without classical RSTS
Rubinstein–Taybi syndrome European Journal of Human Genetics
Understanding Barrett's Esophagus
Rubinstein–Taybi syndrome in diverse populations - Tekendo‐Ngongang - 2020 - American Journal of Medical Genetics Part A - Wiley Online Library
PDF) Barrett's Esophagus in Rubinstein-Taybi Syndrome
Barrett's Esophagus Explained
Fibrodysplasia Ossificans Progressiva Research Paper
Seeing the Unseen: Recent Advances in Barrett's Esophagus
Recomendado para você
-
Severe persistent pulmonary hypertension in a neonate with22 setembro 2024
-
Rubinstein Taybi Syndrome: Most Up-to-Date Encyclopedia, News & Reviews22 setembro 2024
-
Figure 2. [Dorsal (A) and palmar (B)]. - GeneReviews® - NCBI Bookshelf22 setembro 2024
-
Extending the clinical and genetic spectrum of ARID2 related intellectual disability. A case series of 7 patients - ScienceDirect22 setembro 2024
-
PDF) Rubinstein-Taybi syndrome: Dental manifestations and management22 setembro 2024
-
genereviews.org - GeneReviews® - NCBI Bookshelf22 setembro 2024
-
Clinical and mutational spectrum in Korean patients with Rubinstein–Taybi syndrome: The spectrum of brain MRI abnormalities - ScienceDirect22 setembro 2024
-
The behavioral phenotype of Rubinstein–Taybi syndrome: A scoping review of the literature - Awan - 2022 - American Journal of Medical Genetics Part A - Wiley Online Library22 setembro 2024
-
Full article: Psychomotor, cognitive, and socio-emotional developmental profiles of children with Rubinstein-Taybi Syndrome and a severe intellectual disability22 setembro 2024
-
Expanding the phenotype associated to KMT2A variants: overlapping clinical signs between Wiedemann–Steiner and Rubinstein–Taybi syndromes22 setembro 2024
você pode gostar
-
The plague doctors bride /SCP-049 X female reader - A sacrifice for science - Wattpad22 setembro 2024
-
Y8: 22 Best Alternatives to Y8 Games in 2021 : r/TopBestGames22 setembro 2024
-
Renato Nunez leaves game with injury22 setembro 2024
-
I finally got all the games purchased : r/flipline22 setembro 2024
-
How to Integrate Minecraft Chat Into Your Discord Server with DiscordSRV22 setembro 2024
-
150 Anime Poses Male Female Chibi Manga Poses Figures - Israel22 setembro 2024
-
Fnaf Ar Skin Idea: Golden Freddy / Fredbear : r/fivenightsatfreddys22 setembro 2024
-
Discover Best Selling Items on in 2023 - Sellbery22 setembro 2024
-
Heimdall - Wikipedia22 setembro 2024
-
The Legend of Zelda: Link's Awakening, OT, Open Your Eyes22 setembro 2024