نتایج جستجو برای: autosomal recessive non
تعداد نتایج: 1353235 فیلتر نتایج به سال:
Non-classical congenital adrenal hyperplasia by 21 hydroxylase deficiency is an autosomal recessive disease whose usual presentation a late virilization. In some African countries like Morocco, there are cultural barriers to gynecological examination in girls, women consult until for sexual problem as the case of our patient who consulted clitoris hypertrophy at age 22 years and hormonal assess...
Background and aims: Hearing loss (HL) happens due to the genetic or environmental causes or both. Risk factors include congenital infections and congenital deformities of auricle and ear duct. The present study was performed to briefly explain the genetics, molecular biology and epidemiology of HL in Middle East especially in Iran. Methods: An intense an...
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...
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