Acrocapitofemoral dysplasia: an autosomal recessive skeletal dysplasia with cone shaped epiphyses in the hands and hips

Ítems similars

• Homozygous Mutations in IHH Cause Acrocapitofemoral Dysplasia, an Autosomal Recessive Disorder with Cone-Shaped Epiphyses in Hands and Hips
  per: Hellemans, Jan, et al.
  Publicat: (2003)
• An autosomal recessive cone–rod dystrophy associated with amelogenesis imperfecta
  per: Michaelides, M, et al.
  Publicat: (2004)
• Autosomal recessive hydrotic ectodermal dysplasia.
  per: Fried, K
  Publicat: (1977)
• A mutation in KIF7 is responsible for the autosomal recessive syndrome of macrocephaly, multiple epiphyseal dysplasia and distinctive facial appearance
  per: Ali, Bassam R, et al.
  Publicat: (2012)
• Recessive multiple epiphyseal dysplasia and Stargardt disease in two sisters
  per: Gatticchi, Leonardo, et al.
  Publicat: (2021)