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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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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

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