Article

Description of a new mutation and characterization ofFGFR1, FGFR2, andFGFR3 mutations among Brazilian patients with syndromic craniosynostoses

1998-07-07

Abstract excerpt

Dominant mutations in three fibroblast growth factor receptor genes (FGFRs1-3) cause Crouzon, Jackson-Weiss, Pfeiffer, and Apert syndromes. In the present study, 50 Brazilian patients with these four syndromes (27 Apert, 17 Crouzon, 5 Pfeiffer, and 1 Jackson-Weiss patients) were screened for mutations in the FGFR1-3 genes. Except for one, all the Apert patients had either S252W (n = 16) or P253R (n = 10) mutations...

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Literature Corpus work: e445432c-0d13-512f-aa33-86b042f64636
DOI: 10.1002/(sici)1096-8628(19980707)78:3<237::aid-ajmg5>3.0.co;2-m

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