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Homozygous Mutations in IHH Cause Acrocapitofemoral Dysplasia, an Autosomal Recessive Disorder with Cone-Shaped Epiphyses in Hands and Hips

Acrocapitofemoral dysplasia is a recently delineated autosomal recessive skeletal dysplasia, characterized clinically by short stature with short limbs and radiographically by cone-shaped epiphyses, mainly in hands and hips. Genomewide homozygosity mapping in two consanguineous families linked the l...

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Detalhes bibliográficos
Main Authors: Hellemans, Jan, Coucke, Paul J., Giedion, Andres, Paepe, Anne De, Kramer, Peter, Beemer, Frits, Mortier, Geert R.
Formato: Artigo
Idioma:Inglês
Publicado em: The American Society of Human Genetics 2003
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Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC1180335/
https://ncbi.nlm.nih.gov/pubmed/12632327
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