An unusual FGFR1 mutation (fibroblast growth factor receptor 1 mutation) in a girl with non-syndromic trigonocephaly.
作者信息
Kress W, Petersen B, Collmann H, Grimm T
机构信息
Department of Human Genetics, University of Würzburg, Würzburg , Germany.
出版信息
Cytogenet Cell Genet. 2000;91(1-4):138-40. doi: 10.1159/000056834.
PMID:11173846
Abstract
Non-syndromic trigonocephaly is a heterogeneous entity; in most cases the origin is unknown. Rare cases with autosomal dominant and recessive inheritance exist. Here the mutational screening of ten patients in the FGFR1, 2, and 3 genes and the TWIST gene causative of autosomal dominant craniosynostosis syndromes was reported. In one girl an unusual FGFR1 mutation was found.
摘要
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