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In Vivo Functional Study of Disease-associated Rare Human Variants Using Drosophila
Published on: August 20, 2019
Subtotal amelia in a child with autosomal recessive hypohidrotic ectodermal dysplasia
Ali Al Kaissi1, Farid Ben Chehida, Nabil Nassib
1Service d'Orthopedie Infantile, Hopital d'Enfants de Tunis. allawi.rem@planet.tn
Abstract:
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, hypodontia, hypoplasia of the mucous glands, and fine hair. Nine family subjects had variable clinical expression of the disorder.
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