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FGFR2 mutation in a patient with Apert syndrome associated with humeroradial synostosis

✍ Scribed by Yumiko Kanauchi; Yasuteru Muragaki; Toshihiko Ogino; Masatoshi Takahara; Hiroyuki Tsuchida; Daisuke Ishigaki


Book ID
111300764
Publisher
John Wiley and Sons
Year
2003
Tongue
English
Weight
398 KB
Volume
43
Category
Article
ISSN
0914-3505

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The Antley-Bixler syndrome (ABS) is a rare syndrome with synostosis of cranial sutures and elbow joints as minimal diagnostic criteria. The inheritance has been suggested to be autosomal recessive based on two families with sib recurrence with both sexes being affected, and two cases born to consang