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EDS IV (acrogeria): new autosomal dominant and recessive

Evidence is presented that type IV of the Ehlers-Danlos syndrome (EDS IV) is genetically variable. A benign autosomal dominant form and two autosomal recessive variants are described with clinical and biochemical features that are distinct from classical acrogeria.

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Détails bibliographiques
Auteurs principaux: Pope, F M, Nicholls, A C, Jones, P M, Wells, R S, Lawrence, D
Format: Artigo
Langue:Inglês
Publié: 1980
Sujets:
Accès en ligne:https://ncbi.nlm.nih.gov/pmc/articles/PMC1437515/
https://ncbi.nlm.nih.gov/pubmed/7230200
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