[Marinesco-Sjögren syndrome].

نویسندگان

B Gaudier

J P Nuyts

E Bombart

A Lacombe

چکیده

LABORATORY DATA biochemical markers metabolic defect chromosomal assignment chromosome 5q localization gene, structural-functional anomalies CNCG tissue cyclic nucleotide gated channel photoreceptor gene analysis-DNA analysis Marineso-Sjogren syndrome ( MSS) gene chr.5q31 pituitary hormones, modified functions follicle-stimulating hormone, gonadotrophin (FSH) , high levels luteinizing hormone, gonadotrophin (LH) , high levels prolactin (PRL) high levels, hyperprolactinemia tissue, biochemical changes cyclic guanine monophosphate phosphodiesterase dysfunction, cGMP-PDE dysfunction lysosomal disorders

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