Article
IMPAD1 mutations in two Catel-Manzke like patients.
American journal of medical genetics. Part A - 1 Sept 2012
Nizon Mathilde, Alanay Yasemin, Tuysuz Beyhan, Kiper Pelin Ozlem Simsek, Geneviève David, Sillence David, Huber Celine, Munnich Arnold, Cormier-Daire Valérie
Abstract excerpt
Catel-Manzke syndrome is characterized by hyperphalangism with bilateral deviation of the index fingers and micrognathia with or without cleft palate. Some atypical patients present with additional malformations. No molecular basis is yet available. Most patients have an unremarkable family history but autosomal recessive inheritance has been recently suggested in a consanguineous family with recurrence in sibs....
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