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Evidence for the Bauman variant in Kallmann’s syndrome

✍ Scribed by Aban Kadva; Wei Li Di; Ovrang Djahanbakhch; John Monson; Robert Silman


Book ID
114425136
Publisher
John Wiley and Sons
Year
1996
Tongue
English
Weight
378 KB
Volume
44
Category
Article
ISSN
0300-0664

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Novel FGFR1 sequence variants in Kallman
✍ Catherine Dodé; Corinne Fouveaut; Geert Mortier; Sandra Janssens; Jérôme Berther 📂 Article 📅 2006 🏛 John Wiley and Sons 🌐 English ⚖ 84 KB

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), tw