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1 ormative (11 for Crouzon syndrome and 11 for Pfeiffer syndrome).
2  has been previously reported in Crouzon and Pfeiffer syndrome.
3 ation at the sutures is locally increased in Pfeiffer syndrome.
4 uch as CHARGE, Treacher Collins, Crouzon and Pfeiffer syndromes.
5  not only Crouzon but also Jackson-Weiss and Pfeiffer syndromes.
6 totic conditions Crouzon, Jackson-Weiss, and Pfeiffer syndromes.
7 stosis, most markedly in Crouzon, Apert, and Pfeiffer syndromes.
8 ation syndromes attributed to FGFRs, such as Pfeiffer syndrome and Thanatophoric dysplasia, also aris
9 the Pro252Arg mutation in FGFR1 causes human Pfeiffer syndrome and uncovers a molecular mechanism in
10                         Crouzon syndrome and Pfeiffer syndrome are both autosomal dominant craniosyno
11 fathers of patients with Crouzon syndrome or Pfeiffer syndrome, compared with the fathers of control
12 of an activating FGFR2 mutation resulting in Pfeiffer syndrome confirms the physiological significanc
13      A missense mutation was detected in one Pfeiffer syndrome family in which two members had cranio
14                                              Pfeiffer syndrome is a classic form of craniosynostosis
15 tation in Fgfr1, which is orthologous to the Pfeiffer syndrome mutation in humans, exhibit anterio-po
16 /2-associated syndromes (Crouzon, Apert, and Pfeiffer syndromes, n = 12) to the rest of the craniosyn
17 rome patient and the other in exon IIIc in a Pfeiffer syndrome patient, were observed.
18 yndrome Pro253Arg FGFR2c mutant, neither the Pfeiffer syndrome Pro250Arg FGFR1c mutant nor the Muenke
19 sis syndromes including Apert syndrome (AS), Pfeiffer syndrome (PS) and Crouzon syndrome (CS).
20                                              Pfeiffer syndrome (PS; McKusick MIM 101,600) is an autos
21 dition-such as Saethre-Chotzen, Crouzon, and Pfeiffer syndromes-support the hypothesis that TWIST and
22 stitution (Ser252Phe and Pro253Ser) causes a Pfeiffer syndrome variant with mild craniosynostosis, br