نتایج جستجو برای: hypotrichosis
تعداد نتایج: 1028 فیلتر نتایج به سال:
BACKGROUND Mutations in the ST14 gene, encoding the serine protease matriptase, have been associated with ichthyosis-hypotrichosis syndrome (IHS), a Mendelian disorder with skin and hair manifestations which include, in addition to ichthyosis and hypotrichosis, hypohidrosis and follicular atrophoderma. However, the understanding of the specific consequences of mutations in ST14 on the developme...
Hypohidrotic ectodermal dysplasia (HED) is a rare genetic disorder caused by mutation in either the ectodysplasin (EDA), A receptor (EDAR), EDAR associated via death domain (EDARADD), or Wnt family member 10A (WNT10A) genes that result impaired development of ectodermal-derived structures. The literature defines two types dysplasia, which are hypohidrotic and hidrotic. X‐linked (XLHED), also kn...
Two children with congenital hypotrichosis are described. Both presented with persistent short, fine hair since birth. Evidence is provided that the short hair observed in these patients is due to a short anagen phase of the hair cycle, with a normal rate of hair growth. Shortening of the anagen phase of the scalp hair cycle leads to a decrease in the maximal hair length and an increase in the ...
Splice site mutations in the P-cadherin gene underlie hypotrichosis with juvenile macular dystrophy.
BACKGROUND Hypotrichosis with juvenile macular dystrophy (HJMD; OMIM 601553) is a rare autosomal recessive disorder characterized by hypotrichosis with short scalp hair and progressive macular dystrophy leading to blindness between the second and the fourth decades of life. HJMD is caused by mutations in the P-cadherin gene (CDH3), a member of the family of classical cadherins. METHODS We ana...
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