نتایج جستجو برای: netherton syndrome

تعداد نتایج: 621922  

2017
Pikria Zhvania Naomi Sulinger Hoyle Lia Nadareishvili Dea Nizharadze Mzia Kutateladze

Netherton syndrome (NS) is a rare autosomal recessive disorder, characterized by a classical triad of clinical features, including congenital ichthyosiform erythroderma, trichorrhexis invaginata, and atopic diathesis coupled with frequent bacterial infections (1). The genetic basis for the disease has been recently identified with mutations in gene SPINK5, which is involved in the regulation of...

نمودار تعداد نتایج جستجو در هر سال

با کلیک روی نمودار نتایج را به سال انتشار فیلتر کنید