Cornelia de lange syndrome with thyroid agenesis of an indonesian patient.
Sign Up to like & getrecommendations! Published in 2017 at "Cellular and molecular biology"
DOI: 10.14715/cmb/2017.63.8.19
Abstract: Cornelia de Lange syndrome (CdLs), which is also called Brachmann de Lange syndrome, is a congenital disorder characterized by distinctive facial features, prenatal and postnatal growth deficiency, feeding difficulties, psychomotor delay, behavioral problems, and associated… read more here.
Keywords: lange syndrome; indonesian patient; thyroid agenesis; exon exon ... See more keywords
Clinical Profile of Hyper-IgE Syndrome in India
Sign Up to like & getrecommendations! Published in 2021 at "Frontiers in Immunology"
DOI: 10.3389/fimmu.2021.626593
Abstract: Introduction: Hyper-IgE Syndrome (HIES) is a rare inborn error of immunity (IEI) characterized by a constellation of symptoms related to susceptibility to Staphylococcal skin and pulmonary infections, eczema, raised serum IgE (>2,000 IU/ml), craniofacial anomalies,… read more here.
Keywords: hyper ige; stat3 hies; ige syndrome; exon exon ... See more keywords
Global spectrum of USH2A mutation in inherited retinal dystrophies: Prompt message for development of base editing therapy
Sign Up to like & getrecommendations! Published in 2022 at "Frontiers in Aging Neuroscience"
DOI: 10.3389/fnagi.2022.948279
Abstract: Purpose Mutation in the USH2A gene is the most common cause of inherited retinal dystrophy (IRD), including non-syndromic retinitis pigmentosa (RP) and Usher syndrome II (USH2). Gene editing and therapy targeting USH2A, especially the hotspot… read more here.
Keywords: exon exon; spectrum ush2a; inherited retinal; gene ... See more keywords