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Unknown syndrome: ischiadic hypoplasia, renal dysfunction, immunodeficiency, and a pattern of minor congenital anomalies.

We report a 6 year old male with a pattern of malformations and anomalies including intrauterine growth retardation, microcephaly, psychomotor retardation, a pattern of craniofacial anomalies (flat face, hypertelorism, epicanthic folds, strabismus, short nose, low set ears), hypospadias and cryptorc...

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書誌詳細
主要な著者: Braegger, C, Bottani, A, Hallé, F, Giedion, A, Leumann, E, Seger, R, Willi, U, Schinzel, A
フォーマット: Artigo
言語:Inglês
出版事項: 1991
主題:
オンライン・アクセス:https://ncbi.nlm.nih.gov/pmc/articles/PMC1016751/
https://ncbi.nlm.nih.gov/pubmed/1999836
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