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Hoffmann, R. A wiki for the life sciences where authorship matters. Nature Genetics (2008)
 

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Hypogonadotrophic hypogonadism in Roifman syndrome.

The combination of spondyloepiphyseal dysplasia, humoral immune deficiency, growth retardation, intellectual deficit and characteristic facial dysmorphism has recently been delineated as a discrete disorder thus far only reported in males. This report describes a fifth individual with co-existent hypogonadotrophic hypogonadism, thereby expanding the phenotype and possibly offering insight into the genetic aetiology of this condition.[1]

References

  1. Hypogonadotrophic hypogonadism in Roifman syndrome. Robertson, S.P., Rodda, C., Bankier, A. Clin. Genet. (2000) [Pubmed]
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