ライフサイエンスコーパス: Crouzon syndrome

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1 achondroplasia and acanthosis nigricans with Crouzon Syndrome.

2 effect as a reported synonymous mutation for Crouzon syndrome.

3 in cause of visual impairment in Apert's and Crouzon syndromes.

4 amilies were shown to be informative (11 for Crouzon syndrome and 11 for Pfeiffer syndrome).

5 Crouzon syndrome and Pfeiffer syndrome are both autosoma

6 ther exon IIIa or exon IIIc reported only in Crouzon syndrome are present also in one of the other tw

7 Thus the human developmental abnormality Crouzon syndrome arises from constitutive activation of

8 substitution, ascertained in a boy with mild Crouzon syndrome (craniosynostosis with normal limbs) is

9 rt syndrome (AS), Pfeiffer syndrome (PS) and Crouzon syndrome (CS).

10 Crouzon syndrome is an autosomal dominant condition prim

11 curred in nearly all mice homozygous for the Crouzon syndrome mutation C342Y in the mesenchymal splic

12 e was noted for the fathers of patients with Crouzon syndrome or Pfeiffer syndrome, compared with the

13 r FgfR2(C278F), a receptor mutation found in Crouzon syndrome or the ligand Fgf8.

14 introduced FGFR2 carrying either the C342Y (Crouzon syndrome) or the S252W (Apert syndrome) mutation

15 Two insertions, one in exon IIIa in a Crouzon syndrome patient and the other in exon IIIc in a

16 In Crouzon syndrome patients with acanthosis nigricans, a r

17 Only in Crouzon syndrome were mutations identified in exon IIIa.

18 Crouzon syndrome with acanthosis nigricans is a distinct

19 In addition to craniofacial malformations, Crouzon syndrome with acanthosis nigricans results in ch

20 growth factor receptor 3 (FGFR3), linked to Crouzon syndrome with acanthosis nigricans, as well as t

21 naling and may explain the mild phenotype in Crouzon syndrome with Acanthosis Nigricans.

22 receptor 3 (FGFR3) is the genetic cause for Crouzon syndrome with Acanthosis Nigricans.

23 e domain and the Ala391Glu mutant, linked to Crouzon syndrome with acanthosis nigricans.

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