Autosomal Recessive Transmission of a Rare KRT74 Variant Causes Hair and Nail Ectodermal Dysplasia: Allelism with Dominant Woolly Hair/Hypotrichosis

Benzer Materyaller

• Autosomal recessive transmission of a rare KRT74 variant causes hair and nail ectodermal dysplasia: allelism with dominant woolly hair/hypotrichosis.
  Yazar:: Doroteya Raykova, ve diğerleri
  Baskı/Yayın Bilgisi: (2014-01-01)
• A novel mutation in the Lipase H gene underlies autosomal recessive hypotrichosis and woolly hair
  Yazar:: Tariq, Muhammad, ve diğerleri
  Baskı/Yayın Bilgisi: (2012)
• Autosomal-Dominant Woolly Hair Resulting from Disruption of Keratin 74 (KRT74), a Potential Determinant of Human Hair Texture
  Yazar:: Shimomura, Yutaka, ve diğerleri
  Baskı/Yayın Bilgisi: (2010)
• Mutations in LPAR6/P2RY5 and LIPH are associated with woolly hair and/or hypotrichosis
  Yazar:: Kurban, Mazen, ve diğerleri
  Baskı/Yayın Bilgisi: (2012)
• Founder mutations in the lipase H (LIPH) gene in families with autosomal recessive woolly hair/hypotrichosis
  Yazar:: Shimomura, Yutaka, ve diğerleri
  Baskı/Yayın Bilgisi: (2009)