Please use this identifier to cite or link to this item: https://hdl.handle.net/20.500.12104/44372
Title: Schilbach-Rott syndrome in a third family: Further delineation of an autosomal dominant trait
Author: Becerra-Solano, L.E.
Casillas-Avila, M.P.
Diaz-Rodriguez, M.
Nastasi-Catanese, J.A.
Toscano-Flores, J.J.
Ramirez-Duenas, M.D.L.
Issue Date: 2007
Abstract: We describe a father-son Mexican pair with typical features of Schilbach-Rott syndrome (SRS): ocular hypotelorism, cleft palate, hypospadias (only in the child), and microcephaly. This observation documents for the first time a male to male transmission and therefore confirms that the SRS is inherited as an autosomal dominant trait with variable expressivity.
URI: http://www.scopus.com/inward/record.url?eid=2-s2.0-35748931189&partnerID=40&md5=be7442c0eca55c76532135c1556df7c0
http://hdl.handle.net/20.500.12104/44372
Appears in Collections:Producción científica UdeG

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