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A novel insertion in the FGFR2 gene in a patient with Crouzon phenotype and sacrococcygeal tail

✍ Scribed by Pablo Lapunzina; Alejandra Fernández; Juan M. Sánchez Romero; Alicia Delicado; Miguel Sáenz de Pipaon; Isidora López Pajares; Jesús Molano


Book ID
101704743
Publisher
John Wiley and Sons
Year
2004
Tongue
English
Weight
232 KB
Volume
73
Category
Article
ISSN
1542-0752

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Novel mutation in the FGFR2 gene at the
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We have studied an infant with cloverleaf skull, proptosis, radioulnar synostosis and broad thumbs and great toes diagnosed as Pfeiffer syndrome type 2. However, there were many overlapping findings with Antley-Bixler syndrome. The patient was found to have a G to T mutation in codon 290 exon 7 of t