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Osteoporosis-pseudoglioma syndrome: clinical, morphological, and biochemical studies.

We report a sibship of a sister and brother with osteoporosis-pseudoglioma syndrome. Several other family members became blind or showed signs of bone involvement. There was considerable consanguinity in the pedigree. The proband was small in size and had prominent skeletal deformities and clinical...

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Библиографические подробности
Главные авторы: Somer, H, Palotie, A, Somer, M, Hoikka, V, Peltonen, L
Формат: Artigo
Язык:Inglês
Опубликовано: 1988
Предметы:
Online-ссылка:https://ncbi.nlm.nih.gov/pmc/articles/PMC1080031/
https://ncbi.nlm.nih.gov/pubmed/3172149
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