Journal of Pregnancy and Child Health
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Mokni Moncef
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A Tunisian Case of Dyssegmental Dysplasia: Silverman-handmarker Type
Objective: Dyssegmental dysplasia, Silverman-Handmaker Type, is an autosomal recessive lethal disorder, originally considered as a Kniest-like skeletal dysplasia with camptomelia. It is linked to functional null mutations of the perlecan gene (HSPG2) located on chromosome 36.1-35. We report the first case diagnosed in our department. Study: A 31 ye... Read More»
Yacoubi Mohamed Tahar, Nadia Ben Jamaa, Achour Radhouane, Ksibi Imen, Mokni Moncef and Delesoide Anne Lise
Review Article: J Preg Child Health
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