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Subtotal amelia in a child with autosomal recessive hypohidrotic ectodermal dysplasia

We report an inbred Tunisian family, in which the proband manifested signs of hypohidrotic ectodermal dysplasia, subtotal amelia, scoliosis and left renal agenesis. Two other family members had the full clinical criteria of hypohidrotic ectodermal dysplasia, characterized by deficient sweat glands,...

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Auteurs principaux: Al Kaissi, Ali, Chehida, Farid Ben, Nassib, Nabil, Safi, Hatem, Djnziri, Mrad, Ghachem, Maher Ben, Gharbi, Hassan
Format: Artigo
Langue:Inglês
Publié: Makerere Medical School 2005
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Accès en ligne:https://ncbi.nlm.nih.gov/pmc/articles/PMC1831925/
https://ncbi.nlm.nih.gov/pubmed/16246000
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