نتایج جستجو برای: genetic disorder

تعداد نتایج: 1161670  

Journal: :The International Journal of Neuropsychopharmacology 2013

Journal: :Biochemical and Biophysical Research Communications 2014

Journal: :Dr. Sulaiman Al Habib medical journal 2023

Abstract Netherton syndrome is a rare genetic disorder inherited in an autosomal recessive pattern. Mutations the serine protease inhibitor Kazal-type 5 ( SPINK5 ) gene are responsible for this disorder. can have multisystemic effects primarily involving hair, skin and immune system. Currently, no definitive treatment has been reported beyond supportive care. Herein, we report case of newborn d...

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