Antley-Bixler syndrome 2 is an autosomal recessive disorder caused by mutations of the FGFR2 gene. In contrast to type 1, type 2 is not associated with genital abnormalities as steroidogenesis is normal.
1. |
Hurley ME et al. (2004) Antley-Bixler syndrome with radioulnar synostosis. |
2. |
Chabchoub A et al. (1998) The Antley-Bixler syndrome. A new case without radiohumeral synostosis. |
3. |
Crisponi G et al. (1997) Antley-Bixler syndrome: case report and review of the literature. |
4. |
Hassell S et al. (1994) Antley-Bixler syndrome: report of a patient and review of literature. |
5. |
Feigin E et al. (1995) Antley-Bixler syndrome and esophageal atresia in a patient with trisomy 21. |
6. |
LeHeup BP et al. (1995) The Antley-Bixler syndrome: report of two familial cases with severe renal and anal anomalies. |
7. |
DeLozier CD et al. (1980) The syndrome of multisynostotic osteodysgenesis with long-bone fractures. |
8. |
Robinson LK et al. (1982) The Antley-Bixler syndrome. |
9. |
Antley RM et al. (1983) Developments in the trapezoidcephaly-multiple synostosis syndrome. |
10. |
Schinzel A et al. (1983) Antley-Bixler syndrome in sisters: a term newborn and a prenatally diagnosed fetus. |
11. |
Escobar LF et al. (1988) Antley-Bixler syndrome from a prognostic perspective: report of a case and review of the literature. |
12. |
None (1989) Antley-Bixler syndrome from a prognostic perspective. |
13. |
McGlaughlin KL et al. (2010) Spectrum of Antley-Bixler syndrome. |
14. |
Gripp KW et al. (1999) Not Antley-Bixler syndrome. |
15. |
None (1999) Patient described by Chun et al. may not present Antley-Bixler syndrome. |
16. |
Chun K et al. (1998) FGFR2 mutation associated with clinical manifestations consistent with Antley-Bixler syndrome. |
17. |
Huang N et al. (2005) Diversity and function of mutations in p450 oxidoreductase in patients with Antley-Bixler syndrome and disordered steroidogenesis. |
18. |
Reardon W et al. (2000) Evidence for digenic inheritance in some cases of Antley-Bixler syndrome? |
19. |
OMIM.ORG article Omim 207410 |