Laboratory for Molecular Diagnostics
Center for Nephrology and Metabolic Disorders
Acrocapitofemoral dysplasia is an autosomal recessive disorder caused by IHH mutations. It is characterized by bone dysplasia and short stature.
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Hellemans J et al. (2003) Homozygous mutations in IHH cause acrocapitofemoral dysplasia, an autosomal recessive disorder with cone-shaped epiphyses in hands and hips. 
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| 2. |
Mortier GR et al. (2003) Acrocapitofemoral dysplasia: an autosomal recessive skeletal dysplasia with cone shaped epiphyses in the hands and hips.
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| 3. |
OMIM.ORG article Omim 607778
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| 4. |
Orphanet article Orphanet ID 63446
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