Das Robinow-Syndrom 1 ist eine autosomal dominante Erkrankung, die durch Mutationen im WNT5A-Gen ausgelöst wird. Es finden sich verschiedene Fehlbildungen. An der Niere ist insbesondere die Hydronephrose typisch.
1. |
Oishi I et al. (2003) The receptor tyrosine kinase Ror2 is involved in non-canonical Wnt5a/JNK signalling pathway. |
2. |
Beiraghi S et al. (2011) Craniofacial and intraoral phenotype of Robinow syndrome forms. |
3. |
Mazzeu JF et al. (2007) Clinical characterization of autosomal dominant and recessive variants of Robinow syndrome. |
4. |
Patton MA et al. (2002) Robinow syndrome. |
5. |
Kantaputra PN et al. (1999) Robinow (fetal face) syndrome: report of a boy with dominant type and an infant with recessive type. |
6. |
Türken A et al. (1996) A large inguinal hernia with undescended testes and micropenis in Robinow syndrome. |
7. |
Vallée L et al. () [Robinow's syndrome with dominant transmission]. |
8. |
Shprintzen RJ et al. (1982) Male-to-male transmission of Robinow's syndrome. Its occurrence in association with cleft lip and cleft palate. |
9. |
Petit P et al. (1980) The Robinow syndrome. |
10. |
Lee PA et al. (1982) Robinow's syndrome. Partial primary hypogonadism in pubertal boys, with persistence of micropenis. |
11. |
Schinzel A et al. (1974) Fetal face syndrome with acral dysostosis. |
12. |
Wadlington WB et al. (1973) Mesomelic dwarfism with hemivertebrae and small genitalia (the Robinow syndrome). |
13. |
None (1973) A syndrome's progress. |
14. |
None (1973) Robinow dwarfing syndrome accompanied by penile agenesis and hemivertebrae. |
15. |
None (1985) Umbilical dysmorphology. The importance of contemplating the belly button. |
16. |
Bain MD et al. (1986) Robinow syndrome without mesomelic 'brachymelia': a report of five cases. |
17. |
Butler MG et al. (1987) Robinow syndrome: report of two patients and review of literature. |
18. |
Israel H et al. (1988) Craniofacial pattern similarities and additional orofacial findings in siblings with the Robinow syndrome. |
19. |
Baxová A et al. (1989) [2 cases of Robinow's syndrome with mental retardation]. |
20. |
Kelly TE et al. (1975) The Robinow syndrome: an isolated case with a detailed study of the phenotype. |
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Roifman M et al. (2015) De novo WNT5A-associated autosomal dominant Robinow syndrome suggests specificity of genotype and phenotype. |
22. |
Person AD et al. (2010) WNT5A mutations in patients with autosomal dominant Robinow syndrome. |
23. |
Robinow M et al. (1969) A newly recognized dwarfing syndrome. |
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OMIM.ORG article Omim 180700 |