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An oculocerebral hypopigmentation syndrome: a case report with clinical, histochemical, and ultrastructural findings.

A 4 year old boy is reported with tyrosinase positive hypopigmentation, mental retardation, ataxia, and myopia. Radiological investigation showed occipital cerebral atrophy, coxa valga, and generalised osteoporosis. The skin histology and electron microscopy are reported and discussed. The clinical...

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主要な著者: Patton, M A, Baraitser, M, Heagerty, A H, Eady, R A
フォーマット: Artigo
言語:Inglês
出版事項: 1987
主題:
オンライン・アクセス:https://ncbi.nlm.nih.gov/pmc/articles/PMC1049905/
https://ncbi.nlm.nih.gov/pubmed/3104590
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