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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
115091465
Publisher
John Wiley and Sons
Year
1993
Tongue
English
Weight
1007 KB
Volume
43
Category
Article
ISSN
0009-9163

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FGFR2 mutation associated with clinical
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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