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1 BRCA2, and one to the Alu element in FGFR2 (Apert syndrome).
2 vere than the limb abnormalities observed in Apert syndrome.
3 ws post-natal assessment of other aspects of Apert syndrome.
4 d craniofacial abnormalities associated with Apert syndrome.
5 ution results in a phenotype consistent with Apert syndrome.
6 lence of other malformations associated with Apert syndrome.
7 ponsible for virtually all sporadic cases of Apert syndrome.
8 standing the basis of respiratory defects in Apert syndrome.
9 are disorders related to paternal age (e.g., Apert syndrome, achondroplasia), this process is known a
13 phenocopied the symphalangism that occurs in Apert syndrome and the number of affected joints was dep
17 iety of craniosynostosis syndromes including Apert syndrome (AS), Pfeiffer syndrome (PS) and Crouzon
19 ting mutations in FGFR2 and FGFR3 that cause Apert Syndrome, Beare-Stevenson Syndrome, hypochondropla
24 ions in Crouzon, Jackson-Weiss, Pfeiffer and Apert syndromes have been reported in the FGFR2 extracel
35 n-of-function interactions that occur in the Apert syndrome Pro253Arg FGFR2c-FGF2 crystal structure.
38 lysis of DNA from 70 unrelated patients with Apert syndrome showed that 45 had the Ser252Trp mutation
39 ations, and risk of fathering offspring with Apert syndrome that may vary across cohorts, but with no
40 servation that the Ser252Phe mutation causes Apert syndrome, whereas the other single or double subst
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