Novel FGFR1 sequence variants in Kallmann syndrome, and genetic evidence that the FGFR1c isoform is...
Novel FGFR1 sequence variants in Kallmann syndrome, and genetic evidence that the FGFR1c isoform is required in olfactory bulb and palate morphogenesis
About this item
Full title
Author / Creator
Dodé, Catherine , Fouveaut, Corinne , Mortier, Geert , Janssens, Sandra , Bertherat, Jérôme , Mahoudeau, Jacques , Kottler, Marie-Laure , Chabrolle, Christine , Gancel, Antoine , François, Inge , Devriendt, Koen , Wolczynski, Slawomir , Pugeat, Michel , Pineiro-Garcia, Alfons , Murat, Arnaud , Bouchard, Philippe , Young, Jacques , Delpech, Marc and Hardelin, Jean-Pierre
Publisher
Hoboken: Wiley Subscription Services, Inc., A Wiley Company
Journal title
Language
English
Formats
Publication information
Publisher
Hoboken: Wiley Subscription Services, Inc., A Wiley Company
Subjects
More information
Scope and Contents
Contents
In a new cohort of 141 unrelated patients affected by Kallmann syndrome we identified FGFR1 sequence variants in 17 patients, all in the heterozygous state. The fifteen novel variants consist of 10 missense (p.N77K, p.C101F, p.R250W, p.G270D, p.P283R, p.S332C, p.H621R, p.S685F, p.I693F, p.R822C), two nonsense (p.E324X, p.R661X), a frameshift (p.S43...
Alternative Titles
Full title
Novel FGFR1 sequence variants in Kallmann syndrome, and genetic evidence that the FGFR1c isoform is required in olfactory bulb and palate morphogenesis
Authors, Artists and Contributors
Author / Creator
Fouveaut, Corinne
Mortier, Geert
Janssens, Sandra
Bertherat, Jérôme
Mahoudeau, Jacques
Kottler, Marie-Laure
Chabrolle, Christine
Gancel, Antoine
François, Inge
Devriendt, Koen
Wolczynski, Slawomir
Pugeat, Michel
Pineiro-Garcia, Alfons
Murat, Arnaud
Bouchard, Philippe
Young, Jacques
Delpech, Marc
Hardelin, Jean-Pierre
Identifiers
Primary Identifiers
Record Identifier
TN_cdi_proquest_miscellaneous_68380566
Permalink
https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_proquest_miscellaneous_68380566
Other Identifiers
ISSN
1059-7794
E-ISSN
1098-1004
DOI
10.1002/humu.9470
