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Microcephaly, mental retardation, cataracts, and hypogonadism in sibs: Martsolf's syndrome.

The association of microcephaly, mental retardation, cataracts, and hypogonadism is described in sibs (brother and sister) of consanguineous parents. These features are consistent with a diagnosis of Martsolf's syndrome. In addition, one sib had a cardiomyopathy while the other had cardiac fail...

詳細記述

保存先:
書誌詳細
出版年:J Med Genet
主要な著者: Harbord, M G, Baraitser, M, Wilson, J
フォーマット: Artigo
言語:Inglês
出版事項: BMJ Publishing Group 1989
主題:
オンライン・アクセス:https://ncbi.nlm.nih.govhttps://pmc.ncbi.nlm.nih.gov/articles/PMC1015627/
https://ncbi.nlm.nih.govhttps://pubmed.ncbi.nlm.nih.gov/2738902/
https://ncbi.nlm.nih.govhttps://doi.org/10.1136/jmg.26.6.397
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