نتایج جستجو برای: autosomal

تعداد نتایج: 32291  

برهانی, دکتر مرتضی, کوهساری , دکتر محمدرضا ,

ABSTRACT: DRASH Syndrome is a rare congenital disorder,and the triad of drash syndrome are progressive renal insufficiency ,male pseudohermaphroditism & Wilms tumor .All of the reported cases were sporadic and autosomal dominant inheritance was suspected in some references. We diagnosed a 32- month child with this syndrome in IRAN in 1993. He was presented with wilms tumor and also had male p...

Journal: :Pediatric Sciences Journal (Online) 2022

: Wilson disease (WD) is an autosomal recessive with copper overload. Its clinical picture depends on specific tissue/system damage by the excess copper.

Journal: :Pediatric Nephrology 2021

A Correction to this paper has been published: https://doi.org/10.1007/s00467-021-04971-7

Journal: :Parkinsonism & Related Disorders 2012

Journal: :Journal of Medical Genetics 1982

Journal: :Swiss Medical Forum ‒ Schweizerisches Medizin-Forum 2017

Journal: :Journal of Medical Genetics 1998

ژورنال: پژوهش در پزشکی 2012
نوری رحمت‌آبادی, نگار, کاظمی, زهره ,

Abstract Background: Harlequin ichthyosis is a fatal and extremely rare disorder it is an inborn error of epidermal keratinisation with autosomal recessive inheritance. In most cases, neonates die within a few days after birth. Case presentation: We describe a male term infant born from a 32 years old woman with odd looking, clown like face. The skin was composed of rigid fixed plaques sep...

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