کد مقاله کد نشریه سال انتشار مقاله انگلیسی نسخه تمام متن
8811454 1607130 2018 17 صفحه PDF دانلود رایگان
عنوان انگلیسی مقاله ISI
Description of mutation spectrum and polymorphism of Wilms' tumor 1 (WT1) gene in hypospadias patients in the Indonesian population
موضوعات مرتبط
علوم پزشکی و سلامت پزشکی و دندانپزشکی پریناتولوژی (پزشکی مادر و جنین)، طب اطفال و بهداشت کودک
پیش نمایش صفحه اول مقاله
Description of mutation spectrum and polymorphism of Wilms' tumor 1 (WT1) gene in hypospadias patients in the Indonesian population
چکیده انگلیسی
WT1 mutations were identified in only a few cases of hypospadias and most of these were syndromic. This result implies that mutation of WT1 is not a common cause of hypospadias in the Indonesian population.Table Rare variant gene WT1Sample numberExonDNA alterationAmino acid alterationAlleleSNPPhenotypeType of hypospadiasAssociated anomalies5Int6c.366-9T>C-Het-Mid-shaft-6Int6c.366-9T>C-Het-Mid-shaft-41Int6c.366-9T>C-Het-PenoscrotalUndescended testisAnorectal malformation567c.473G>Ap.R158HHetrs554416372Mid-shaftUndescended testis577c.473G>Ap.R158HHetrs554416372PenoscrotalMicropenis
ناشر
Database: Elsevier - ScienceDirect (ساینس دایرکت)
Journal: Journal of Pediatric Urology - Volume 14, Issue 3, June 2018, Pages 237.e1-237.e7
نویسندگان
, , , , , , ,