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Paternal Origin of FGFR2 Mutations in Sporadic Cases of Crouzon Syndrome and Pfeiffer Syndrome

โœ Scribed by Rivka L. Glaser; Wen Jiang; Simeon A. Boyadjiev; Alissa K. Tran; Andrea A. Zachary; Lionel Van Maldergem; David Johnson; Sinead Walsh; Michael Oldridge; Steven A. Wall; Andrew O.M. Wilkie; Ethylin Wang Jabs


Book ID
117853220
Publisher
American Society of Human Genetics
Year
2000
Tongue
English
Weight
234 KB
Volume
66
Category
Article
ISSN
0002-9297

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โœ Schaefer, F.; Anderson, C.; Can, B.; Say, B. ๐Ÿ“‚ Article ๐Ÿ“… 1998 ๐Ÿ› John Wiley and Sons ๐ŸŒ English โš– 20 KB ๐Ÿ‘ 3 views

We have studied an infant with cloverleaf skull, proptosis, radioulnar synostosis and broad thumbs and great toes diagnosed as Pfeiffer syndrome type 2. However, there were many overlapping findings with Antley-Bixler syndrome. The patient was found to have a G to T mutation in codon 290 exon 7 of t