نتایج جستجو برای: autosomal

تعداد نتایج: 32291  

Journal: :genetics in the 3rd millennium 0
ariana karimineja eva morava thatjana gardeitchik bruno reversade siavash ghaderi-soh tim van damme

cutis laxa is an acquired or inherited condition characterized by redundant, sagging and inelastic skin.  the inherited form is heterogeneous condition with autosomal dominant, autosomal recessive and x-linked inheritance.  autosomal dominant cutis laxa is divided into three types, type i, ii and iii and the responsible genes are eln, fbln5 and aldh18a1 respectively. an x-linked form of cutis l...

Journal: :Pediatric Neurology Briefs 1993

Journal: :Pediatric Neurology Briefs 2000

Journal: :Journal of Neurology, Neurosurgery & Psychiatry 1982

Journal: :acta medica iranica 0
ahmad hashemzadeh department of pediatrics, ghaem hospital, school of medicine, mashhad university of medical sciences, mashhad, iran. farhad heydarian department of pediatrics, ghaem hospital, school of medicine, mashhad university of medical sciences, mashhad, iran.

it is an autosomal recessive, and occasionally autosomal dominant mutant extremely rare disorder with only 100 reported case in literature. this fatal disorder occur in both sexes and all races. in most circumstances the newborn die soon after birth also it is known as harlequin fetus, alligator baby or keratosis diffusa fatalis. because of its rarity, we report 2 cases of this disorder, here.

Journal: :Journal of Medical Genetics 1974

Journal: :Journal of Clinical Pathology 1988

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