نتایج جستجو برای: autosomal
تعداد نتایج: 32291 فیلتر نتایج به سال:
A combination of drugs reduces the growth cysts related to autosomal dominant polycystic kidney disease.
Backgrounds: Hypohidrotic ectodermal dysplasia (HED) is a rare genetic disorder, distinguished by hypotrichosis, hypohidrosis, and hypodontia. HDE can be inherited in X-linked recessive manner as a result of mutations in the ectodysplasin A (EDA) gene as well as autosomal dominant and autosomal recessive manners both of them caused by mutations in EDA receptor (EDAR) and EDAR-associated death d...
congenital cutis laxa is an exceptional condition. no large scale pedigree has been reported from iran. we report a family with 106 members with two members affected with cutis laxa. our cases were two patients (male and female) with pre- and postnatal growth retardation, cutis laxa, characteristic facies and other manifestations which proved that they were affected with cutis laxa. their famil...
Phenylketonuria (PKU) is an autosomal recessive inborn error of phenylalanine metabolism resulting from deficiency hydroxylase (PAH).
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