Journal article
Rare mutations of FGFR2 causing apert syndrome: identification of the first partial gene deletion, and an Alu element insertion from a new subfamily.
- Abstract:
-
Apert syndrome (AS) is a severe disorder, characterized by craniosynostosis and complex syndactyly of the hands and feet. Two heterozygous gain-of-function substitutions (Ser252Trp and Pro253Arg) in exon IIIa of fibroblast growth factor receptor 2 (FGFR2) are responsible for >98% of cases. Here we describe two novel mutations in FGFR2 in the two patients in whom a mutation had not previously been found in our cohort of 227 AS cases. The first is a 1.93-kb deletion, removing exon IIIc and s...
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- Publication status:
- Published
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- Publisher copy:
- 10.1002/humu.20825
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Authors
Bibliographic Details
- Journal:
- Human mutation
- Volume:
- 30
- Issue:
- 2
- Pages:
- 204-211
- Publication date:
- 2009-02-01
- DOI:
- EISSN:
-
1098-1004
- ISSN:
-
1059-7794
- Source identifiers:
-
119870
Item Description
- Language:
- English
- Keywords:
- Pubs id:
-
pubs:119870
- UUID:
-
uuid:46818d6a-e810-49ab-aae8-b6e1a99bb64f
- Local pid:
- pubs:119870
- Deposit date:
- 2012-12-19
Terms of use
- Copyright date:
- 2009
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