Mutations in WNT10B Are Identified in Individuals with Oligodontia
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چکیده
منابع مشابه
Mutations in FGF17, IL17RD, DUSP6, SPRY4, and FLRT3 are identified in individuals with congenital hypogonadotropic hypogonadism.
Congenital hypogonadotropic hypogonadism (CHH) and its anosmia-associated form (Kallmann syndrome [KS]) are genetically heterogeneous. Among the >15 genes implicated in these conditions, mutations in FGF8 and FGFR1 account for ~12% of cases; notably, KAL1 and HS6ST1 are also involved in FGFR1 signaling and can be mutated in CHH. We therefore hypothesized that mutations in genes encoding a broad...
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15 صفحه اول[Oligodontia in 2 siblings with ectodermal dysplasia].
Oligodontia, a form of hypodontia, is commonly seen in permanent than in deciduous dentition. It is defined as the congenital absence of six or more teeth, excluding third molars. It is relatively a rare condition which occurs as an isolated finding or as part of a syndrome. The present paper shows a rare case of oligodontia with ectodermal dysplasia in 2 siblings (boys). Both the cases were as...
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ژورنال
عنوان ژورنال: The American Journal of Human Genetics
سال: 2016
ISSN: 0002-9297
DOI: 10.1016/j.ajhg.2016.05.012