Novel FGFR2 deletion in a patient with Beare-Stevenson-like syndrome.
作者信息
Slavotinek Anne, Crawford Howard, Golabi Mahin, Tao Cathy, Perry Hazel, Oberoi Sneha, Vargervik Karin, Friez Michael
机构信息
Department of Pediatrics, University of California, San Francisco, 94143-0748, USA.
出版信息
Am J Med Genet A. 2009 Aug;149A(8):1814-7. doi: 10.1002/ajmg.a.32947.
Abstract
摘要
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本文引用的文献
1
Rare mutations of FGFR2 causing apert syndrome: identification of the first partial gene deletion, and an Alu element insertion from a new subfamily.导致阿佩尔综合征的FGFR2罕见突变：首例部分基因缺失的鉴定以及来自一个新亚家族的Alu元件插入
Hum Mutat. 2009 Feb;30(2):204-11. doi: 10.1002/humu.20825.
2
Second case of Beare-Stevenson syndrome with an FGFR2 Ser372Cys mutation.第二例伴有FGFR2丝氨酸372半胱氨酸突变的贝亚-史蒂文森综合征。
Am J Med Genet A. 2008 Mar 1;146A(5):658-60. doi: 10.1002/ajmg.a.32176.
3
The first Korean case of Beare-Stevenson syndrome with a Tyr375Cys mutation in the fibroblast growth factor receptor 2 gene.首例成纤维细胞生长因子受体2基因存在Tyr375Cys突变的韩国贝亚里-史蒂文森综合征病例。
J Korean Med Sci. 2007 Apr;22(2):352-6. doi: 10.3346/jkms.2007.22.2.352.
4
A case of Beare-Stevenson syndrome with a broad spectrum of features and a review of the FGFR2 Y375C mutation phenotype.一例具有广泛特征的贝亚-史蒂文森综合征病例及FGFR2 Y375C突变表型综述
Clin Dysmorphol. 2006 Apr;15(2):89-93. doi: 10.1097/01.mcd.0000194407.92676.9d.
5
Mutation screening in patients with syndromic craniosynostoses indicates that a limited number of recurrent FGFR2 mutations accounts for severe forms of Pfeiffer syndrome.对患有综合征性颅缝早闭症患者的突变筛查表明，有限数量的复发性FGFR2突变导致了严重形式的 Pfeiffer 综合征。
Eur J Hum Genet. 2006 Mar;14(3):289-98. doi: 10.1038/sj.ejhg.5201558.
6
Beare-Stevenson syndrome: Two South American patients with FGFR2 analysis.贝亚里-史蒂文森综合征：两名接受FGFR2分析的南美患者。
Am J Med Genet A. 2003 Aug 15;121A(1):41-6. doi: 10.1002/ajmg.a.20101.
7
A case of Beare-Stevenson cutis gyrata syndrome confirmed by mutation analysis of the fibroblast growth factor receptor 2 gene.一例通过成纤维细胞生长因子受体2基因突变分析确诊的比厄-史蒂文森回状颅皮综合征病例。
Pediatr Neurosurg. 2002 Aug;37(2):97-9. doi: 10.1159/000065112.
8
Mutation in the FGFR2 gene in a Taiwanese patient with Beare-Stevenson cutis gyrata syndrome.一名患有比厄-史蒂文森回旋状皮肤综合征的台湾患者的FGFR2基因突变。
Clin Genet. 2002 Mar;61(3):218-21. doi: 10.1034/j.1399-0004.2002.610309.x.
9
FGFR2 gene mutation (Tyr375Cys) in a new case of Beare-Stevenson syndrome.一例新发Beare-Stevenson综合征患者的FGFR2基因突变（Tyr375Cys）
Am J Med Genet. 1998 Apr 1;76(4):362-4.
10
Fibroblast growth factor receptor 2 mutations in Beare-Stevenson cutis gyrata syndrome.比阿-史蒂文森回旋状皮肤综合征中的成纤维细胞生长因子受体2突变
Nat Genet. 1996 Aug;13(4):492-4. doi: 10.1038/ng0896-492.
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