Article
[Molecular genetic mutation analysis of the PTPN11 gene in the multiple lentigines (LEOPARD) syndrome].
Der Hautarzt; Zeitschrift fur Dermatologie, Venerologie, und verwandte Gebiete - 1 Dec 2003
Froster U G, Glander H-J, Heinritz W
Abstract excerpt
BACKGROUND AND OBJECTIVE: LEOPARD syndrome (MIM #151100) is a rare autosomal dominant condition with characteristic skin anomalies, facial dysmorphism, hypertelorism, cardiac anomalies, and occasional conductive hearing loss. Mutations in the PTPN11 gene are described as the causal gene defect fo...
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