In:
American Journal of Medical Genetics Part A, Wiley, Vol. 167, No. 1 ( 2015-01), p. 123-127
Abstract:
Craniosynostosis is a congenital anomaly that can occur as an isolated condition or as part of a syndrome. Although several genes are known to cause syndromic craniosynostosis, only 24% can be attributed to known genes. Therefore, it is likely that more mutations and other genes are involved. We present the identification of a novel point mutation in fibroblast growth factor receptor 2 ( FGFR2) , c.812G 〉 T, p.(Gly271Val) or c.1851G 〉 C, p.(Leu617Phe). Furthermore, we describe a mutation that has been identified just recently, c.812G 〉 T, (p.Gly271Val) or c.1851G 〉 C, (p.Leu617Phe). In addition, we describe findings from a sequence analysis of all coding exons and exon/intron boundaries of FGFR2 performed on 124 patients with syndromic craniosynostosis. © 2014 Wiley Periodicals, Inc.
Type of Medium:
Online Resource
ISSN:
1552-4825
,
1552-4833
DOI:
10.1002/ajmg.a.v167.1
DOI:
10.1002/ajmg.a.36827
Language:
English
Publisher:
Wiley
Publication Date:
2015
detail.hit.zdb_id:
1493479-6
SSG:
12
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