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Mutations in fibroblast growth factor receptor 1 cause Kallmann syndrome with a wide spectrum of reproductive phenotypes

โœ Scribed by Nelly Pitteloud; Astrid Meysing; Richard Quinton; James S. Acierno Jr.; Andrew A. Dwyer; Lacey Plummer; Eric Fliers; Paul Boepple; Frances Hayes; Stephanie Seminara; Viriginia A. Hughes; Jinghong Ma; Pierre Bouloux; Moosa Mohammadi; William F. Crowley Jr.


Book ID
116734014
Publisher
Elsevier Science
Year
2006
Tongue
English
Weight
483 KB
Volume
254-255
Category
Article
ISSN
0303-7207

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Severe achondroplasia with developmental
โœ Bellus, Gary A.; Bamshad, Michael J.; Przylepa, Kelly A.; Dorst, John; Lee, Rola ๐Ÿ“‚ Article ๐Ÿ“… 1999 ๐Ÿ› John Wiley and Sons ๐ŸŒ English โš– 87 KB ๐Ÿ‘ 2 views

We previously discovered a novel missense mutation (Lys650Met) in the tyrosine kinase domain of the fibroblast growth factor receptor 3 (FGFR3) gene in four unrelated individuals with a condition we called "severe achondroplasia with developmental delay and acanthosis nigricans" (SADDAN) [Tavormina