Apert syndrome (AS) is clinically characterized by typical facial features and symmetrical syndactyly of the digits. AS is inherited as an autosomal dominant trait. Recently, a fibroblast growth factor receptors 2 (FGFR2) mutation, either C934G or C937G, was identified in exon IIIa. Our report docum
✦ LIBER ✦
Early prenatal diagnosis of the ICF syndrome
✍ Scribed by Erik J. Björck; The-Hung Bui; Cisca Wijmenga; Ulla Grandell; Magnus Nordenskjöld
- Publisher
- John Wiley and Sons
- Year
- 2000
- Tongue
- English
- Weight
- 78 KB
- Volume
- 20
- Category
- Article
- ISSN
- 0197-3851
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