Article
Clinical findings in four Brazilian families affected by Saethre-Chotzen syndrome without TWIST mutations.
The Cleft palate-craniofacial journal : official publication of the American Cleft Palate-Craniofacial Association - 1 May 2004
Nascimento Sandra R D, de Mello Maricilda P, Batista Juliano C, Balarin Marly A S, Lopes Vera L Gil da Silva
Abstract excerpt
OBJECTIVE: To analyze the dysmorphological variability and to investigate the presence of mutations in the exon 1 of TWIST gene using direct sequencing in Brazilian families presenting with Saethre-Chotzen Syndrome (SCS). METHODS: Four families with 24 patients diagnosed as having features of SCS were studied. Phenotypic characteristics of all patients were inventoried. The investigation protocol included...
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