Characterization of three ciliopathy pedigrees expands the phenotype associated with biallelic C2CD3 variants
نویسندگان
چکیده
منابع مشابه
new semigroup compactifications via the enveloping semigroups of associated flows
this thesis deals with the construction of some function algebras whose corresponding semigroup compactification are universal with respect to some properies of their enveloping semigroups. the special properties are of beigan a left zero, a left simple, a group, an inflation of the right zero, and an inflation of the rectangular band.
15 صفحه اولExpanding the phenotype of CRB2 mutations - A new ciliopathy syndrome?
Recessive CRB2 mutations were recently reported to cause both steroid resistant nephrotic syndrome and prenatal onset ventriculomegaly with kidney disease. We report two Ashkenazi Jewish siblings clinically diagnosed with ciliopathy. Both presented with severe congenital hydrocephalus and mild urinary tract anomalies. One affected sibling also has lung hypoplasia and heart defects. Exome sequen...
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OBJECTIVE To investigate the phenotype and age-related penetrance of primary open-angle glaucoma (POAG) in Australian families with the myocilin mutation Thr377Met. METHOD AND DESIGN Cross-sectional genetic study. Four unrelated pedigrees carrying the Thr377Met mutation were ascertained from more than 2000 consecutive cases of POAG in the Glaucoma Inheritance Study in Tasmania and from famili...
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DYT1 early-onset primary dystonia (DYT1) is a well-described dystonia caused by an in-frame GAG nucleotide deletion in the TOR1A gene, c.907_909delGAG. The only phenotype linked to TOR1A is dystonia. Homozygous GAG deletions or compound heterozygosity for mutations in TOR1A have never been reported in humans. Arthrogryposis, defined as multiple congenital contractures, affects 1 in 3,000–5,000 ...
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Whole-exome sequencing (WES) has proven its utility in finding novel genes associated with rare conditions and its usefulness is being further demonstrated in expanding the phenotypes of well known diseases. We present here a family with a previously undiagnosed X-linked condition characterized by progressive restriction of joint range of motion, prominence of the supraorbital ridge, audiology ...
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ژورنال
عنوان ژورنال: European Journal of Human Genetics
سال: 2018
ISSN: 1018-4813,1476-5438
DOI: 10.1038/s41431-018-0222-3