A homozygous missense variant in type I keratin KRT25 causes autosomal recessive woolly hair

Παρόμοια τεκμήρια

• A Homozygous Missense Mutation in SLC25A16 is Associated with Autosomal Recessive Isolated Fingernail Dysplasia in a Pakistani Family
  ανά: Khan, S., κ.ά.
  Έκδοση: (2017)
• A Novel ESRRB Deletion Is a Rare Cause of Autosomal Recessive Nonsyndromic Hearing Impairment among Pakistani Families
  ανά: Lee, Kwanghyuk, κ.ά.
  Έκδοση: (2011)
• Autosomal-Recessive Hearing Impairment Due to Rare Missense Variants within S1PR2
  ανά: Santos-Cortez, Regie Lyn P., κ.ά.
  Έκδοση: (2016)
• Autosomal Recessive Nonsyndromic Hearing Impairment due to a Novel Deletion in the RDX Gene
  ανά: Lee, Kwanghyuk, κ.ά.
  Έκδοση: (2011)
• Novel CLDN14 Mutations in Pakistani Families With Autosomal Recessive Non-Syndromic Hearing Loss
  ανά: Lee, Kwanghyuk, κ.ά.
  Έκδοση: (2012)