WNT10A missense mutation associated with a complete Odonto-Onycho-Dermal Dysplasia syndrome

Παρόμοια τεκμήρια

• Mutation in WNT10A Is Associated with an Autosomal Recessive Ectodermal Dysplasia: The Odonto-onycho-dermal Dysplasia
  ανά: Adaimy, Lynn , κ.ά.
  Έκδοση: (2007)
• Novel missense mutation in the RSPO4 gene in congenital hyponychia and evidence for a polymorphic initiation codon (p.M1I)
  ανά: Khan, Tahir Naeem, κ.ά.
  Έκδοση: (2012)
• Odonto-onycho-dermal dysplasia in a patient homozygous for a WNT10A nonsense mutation and mild manifestations of ectodermal dysplasia in carriers of the mutation
  ανά: Krøigård, Anne Bruun, κ.ά.
  Έκδοση: (2016)
• A novel mutation in the Lipase H gene underlies autosomal recessive hypotrichosis and woolly hair
  ανά: Tariq, Muhammad, κ.ά.
  Έκδοση: (2012)
• Evidence for autosomal recessive inheritance in SPG3A caused by homozygosity for a novel ATL1 missense mutation
  ανά: Khan, Tahir Naeem, κ.ά.
  Έκδοση: (2014)