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Microcephaly, microphthalmia, congenital cataract, optic atrophy, short stature, hypotonia, severe psychomotor retardation, and cerebral malformations: a second family with micro syndrome or a new syndrome?

We report on four children of both sexes from a highly inbred family with hypotonia, spastic diplegia, microcephaly, microphthalmia, congenital cataract, optic atrophy, ptosis, kyphoscoliosis, short stature, severe mental retardation, and cerebral malformations. Six other children may also have been...

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Библиографические подробности
Главные авторы: Megarbane, A, Choueiri, R, Bleik, J, Mezzina, M, Caillaud, C
Формат: Artigo
Язык:Inglês
Опубликовано: BMJ Group 1999
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Online-ссылка:https://ncbi.nlm.nih.gov/pmc/articles/PMC1762968/
https://ncbi.nlm.nih.gov/pubmed/10465117
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