Analysis of the mutational spectrum of theFGFR2gene in Pfeiffer syndrome
β Scribed by Laura R. Cornejo-Roldan; Erich Roessler; M. Muenke
- Publisher
- Springer
- Year
- 1999
- Tongue
- English
- Weight
- 91 KB
- Volume
- 104
- Category
- Article
- ISSN
- 0340-6717
No coin nor oath required. For personal study only.
π SIMILAR VOLUMES
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
## Abstract Congenital central hypoventilation syndrome (CCHS) is a rare syndrome characterized by failure of autonomic respiratory control, often presenting with other dysfunctions of the autonomic nervous system. Segregation analysis suggested a complex model of inheritance with a major locus inv