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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,...

詳細記述

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書誌詳細
主要な著者: Al Kaissi, Ali, Chehida, Farid Ben, Nassib, Nabil, Safi, Hatem, Djnziri, Mrad, Ghachem, Maher Ben, Gharbi, Hassan
フォーマット: Artigo
言語:Inglês
出版事項: Makerere Medical School 2005
主題:
オンライン・アクセス:https://ncbi.nlm.nih.gov/pmc/articles/PMC1831925/
https://ncbi.nlm.nih.gov/pubmed/16246000
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