Localisation of a gene for an autosomal recessive syndrome of macrocephaly, multiple epiphyseal dysplasia, and distinctive facies to chromosome 15q26

Ítems similars

• 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)
• Acrocapitofemoral dysplasia: an autosomal recessive skeletal dysplasia with cone shaped epiphyses in the hands and hips
  per: Mortier, G, et al.
  Publicat: (2003)
• Autosomal Recessive Multiple Epiphyseal Dysplasia in a Korean Girl Caused by Novel Compound Heterozygous Mutations in the DTDST (SLC26A2) Gene
  per: Cho, Tae-Joon, et al.
  Publicat: (2010)
• Autosomal recessive hydrotic ectodermal dysplasia.
  per: Fried, K
  Publicat: (1977)
• 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)