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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,...

Deskribapen osoa

Gorde:
Xehetasun bibliografikoak
Egile Nagusiak: Al Kaissi, Ali, Chehida, Farid Ben, Nassib, Nabil, Safi, Hatem, Djnziri, Mrad, Ghachem, Maher Ben, Gharbi, Hassan
Formatua: Artigo
Hizkuntza:Inglês
Argitaratua: Makerere Medical School 2005
Gaiak:
Sarrera elektronikoa:https://ncbi.nlm.nih.gov/pmc/articles/PMC1831925/
https://ncbi.nlm.nih.gov/pubmed/16246000
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