Hypogonadotrophic Hypogonadism, Short Stature, Cerebellar Ataxia, Rod-Cone Retinal Dystrophy, and Hypersegmented Neutrophils: A Novel Disorder or a New Variant of Boucher-Neuhauser Syndrome?

Journal of Medical Genetics - United Kingdom
doi 10.1136/jmg.40.1.e2
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Genetics
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BMJ

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