A novel deep intronic variant in ATP7B in five unrelated families affected by Wilson disease
Sign Up to like & getrecommendations! Published in 2020 at "Molecular Genetics & Genomic Medicine"
DOI: 10.1002/mgg3.1428
Abstract: Wilson disease is an autosomal recessive metabolic disorder resulting from accumulation of excess copper especially in the liver and brain. This disease is mainly characterized by hepatic disorders and less frequently by neuro‐psychiatric disturbances. This… read more here.
Keywords: atp7b; deep intronic; disease; novel deep ... See more keywords
Intronic variant in POU1F1 associated with canine pituitary dwarfism.
Sign Up to like & getrecommendations! Published in 2021 at "Human genetics"
DOI: 10.1007/s00439-021-02259-2
Abstract: The anterior pituitary gland secretes several endocrine hormones, essential for growth, reproduction and other basic physiological functions. Abnormal development or function of the pituitary gland leads to isolated or combined pituitary hormone deficiency (CPHD). At… read more here.
Keywords: dwarfism; pou1f1 associated; intronic variant; pou1f1 ... See more keywords
A comparison of splicing assays to detect an intronic variant of the OCRL gene in Lowe syndrome.
Sign Up to like & getrecommendations! Published in 2017 at "European journal of medical genetics"
DOI: 10.1016/j.ejmg.2017.08.001
Abstract: Lowe syndrome is an X-linked inherited disorder diagnosed by congenital cataracts, intellectual impairment, and renal tubular dysfunction. It is caused by pathogenic variants of the oculocerebrorenal syndrome of Lowe gene (OCRL), of which more than… read more here.
Keywords: ocrl; variant; comparison splicing; intronic variant ... See more keywords
Characterization of a novel deep-intronic variant in DYNC2H1 identified by whole-exome sequencing in a patient with a lethal form of a short-rib thoracic dysplasia type III
Sign Up to like & getrecommendations! Published in 2022 at "Cold Spring Harbor Molecular Case Studies"
DOI: 10.1101/mcs.a006254
Abstract: Biallelic pathogenic variants in DYNC2H1 are the cause of short-rib thoracic dysplasia type III with or without polydactyly (OMIM #613091), a skeletal ciliopathy characterized by thoracic hypoplasia due to short ribs. In this report, we… read more here.
Keywords: intronic variant; variant; dync2h1; patient ... See more keywords
Lower Circulating Folate Induced by a Fidgetin Intronic Variant Is Associated With Reduced Congenital Heart Disease Susceptibility
Sign Up to like & getrecommendations! Published in 2017 at "Circulation"
DOI: 10.1161/circulationaha.116.025164
Abstract: Background: Folate deficiency is an independent risk factor for congenital heart disease (CHD); however, the maternal plasma folate level is paradoxically not a good diagnostic marker. Genome-wide surveys have identified variants of nonfolate metabolic genes… read more here.
Keywords: circulating folate; folate; heart disease; intronic variant ... See more keywords
Case report: Functional characterization of a novel CHD7 intronic variant in patients with CHARGE syndrome
Sign Up to like & getrecommendations! Published in 2023 at "Frontiers in Genetics"
DOI: 10.3389/fgene.2023.1082100
Abstract: Background: Because CHARGE syndrome is characterized by high clinical variability, molecular confirmation of the clinical diagnosis is of pivotal importance. Most patients have a pathogenic variant in the CHD7 gene; however, variants are distributed throughout… read more here.
Keywords: chd7 intronic; charge syndrome; intronic variant; variant ... See more keywords