2q33-q35   OMIM   PubMed

Acrocapitofemoral dysplasia

*Gene map locus 2q33-q35
ACFD
[Clinical features: short limb dwarfism; cone-shaped epiphyses]
[Inheritance: autosomal recessive]

Homozygous Mutations in IHH Cause Acrocapitofemoral Dysplasia, an Autosomal Recessive Disorder with Cone-Shaped Epiphyses in Hands and Hips
Homozygous Mutations in IHH Cause Acrocapitofemoral Dysplasia, an Autosomal Recessive Disorder with Cone-Shaped Epiphyses in Hands and Hips
Acrocapitofemoral dysplasia: an autosomal recessive skeletal dysplasia with cone shaped epiphyses in the hands and hips
American Journal of Human Genetics
American Journal of Human Genetics
Journal of Medical Genetics

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


 

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Edited by Aldo Campana, February 8, 2010