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[Increase of LDH A and partial trisomy 11p (author's transl)].

作者信息

Rethoré M O, Junien C, Aurias A, Couturier J, Dutrillaux B, Kaplan J C, Lejeune J

出版信息

Ann Genet. 1980;23(1):35-9.

PMID:6965838
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.

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