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Gene Review:

RFMN - Roifman syndrome

Homo sapiens

de Vries, P.J. et al., Mandel, K. et al., Robertson, S.P. et al.

Mandel, Grunebaum, Benson, Robertson, Rodda, Bankier, de Vries, McCartney, McCartney, Woolf, Wozencroft,

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Disease relevance of RFMN

Hypogonadotrophic hypogonadism in Roifman syndrome [1].
BACKGROUND: Roifman syndrome (OMIM 300258) is a multi-system disorder with a physical phenotype that includes Beta-cell immunodeficiency, intra-uterine and postnatal growth retardation, spondyloepiphyseal dysplasia, retinal dystrophy and characteristic facial dysmorphism [2].
CONCLUSIONS: The findings suggest that Roifman syndrome may be an example of an X-linked mental retardation syndrome (XLMRS) [2].

High impact information on RFMN

The cognitive and behavioural phenotype of Roifman syndrome [2].
Noncompaction of the myocardium associated with Roifman syndrome [3].

References

Hypogonadotrophic hypogonadism in Roifman syndrome. Robertson, S.P., Rodda, C., Bankier, A. Clin. Genet. (2000) [Pubmed]
The cognitive and behavioural phenotype of Roifman syndrome. de Vries, P.J., McCartney, D.L., McCartney, E., Woolf, D., Wozencroft, D. Journal of intellectual disability research : JIDR. (2006) [Pubmed]
Noncompaction of the myocardium associated with Roifman syndrome. Mandel, K., Grunebaum, E., Benson, L. Cardiology in the young. (2001) [Pubmed]

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