| Literature DB >> 6965838 |
M O Rethoré, C Junien, A Aurias, J Couturier, B Dutrillaux, J C Kaplan, J Lejeune.
Abstract
An increase of LDH A activity is observed in an adolescent patient trisomic for 11p with the exception of band 11p13. The clinical syndrome is delineated: broad faces, abundant eyebrows in their internal portion, enophtalmia, hypoplasic nasal bridge, hypertelorism, epicanthus, cleft palate or lip, macroglossia, hypotrophic muscles, soft and abundant skin, mental retardation.Entities:
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Year: 1980 PMID: 6965838
Source DB: PubMed Journal: Ann Genet ISSN: 0003-3995