نتایج جستجو برای: incontinentia pigmenti

تعداد نتایج: 2047  

Journal: :Acta dermato-venereologica 2005
Mario Bittar Retno Danarti Arne König Andreas Gal Rudolf Happle

Sir, Incontinentia pigmenti (IP) is an X-linked dominant trait that is intrauterine lethal for males. The disorder is caused by NEMO mutations involving the NFkB activation pathway (1). It is characterized by linear skin lesions and various defects of the central nervous system, the teeth and the eyes. The cutaneous lesions are arranged along the lines of Blaschko, reflecting functional X-chrom...

Journal: :Indian Journal of Paediatric Dermatology 2015

Journal: :Orphanet Journal of Rare Diseases 2014

2017
Prasanth Puthanveetil

In North America and globally, 1 out of 10 people suffer from orphan/rare diseases. Among these patients which are mostly children, 30% of the children die within the first decade. According to National Organization for Rare Disease database (NORD), there are around approximately 7000 rare diseases (https://rarediseases.org). This view point would definitely shed light into the importance of me...

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