Literature DB >> 8267926

Lujan-Fryns syndrome (X-linked mental retardation with marfanoid habitus): report of three cases and review.

D Lacombe1, D Bonneau, A Verloes, D Couet, L Koulischer, J Battin.   

Abstract

We report on three further cases of mildly retarded patients with marfanoid habitus and a pattern of minor anomalies. These patients are likely to be affected with the Lujan-Fryns syndrome. We have reviewed twenty cases from the literature for a better delineation of this newly recognized disorder.

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Year:  1993        PMID: 8267926

Source DB:  PubMed          Journal:  Genet Couns        ISSN: 1015-8146


  2 in total

Review 1.  MED12 mutations in human diseases.

Authors:  Hua Wang; Qin Shen; Li-Hua Ye; Jun Ye
Journal:  Protein Cell       Date:  2013-09       Impact factor: 14.870

Review 2.  Lujan-Fryns syndrome (mental retardation, X-linked, marfanoid habitus).

Authors:  Griet Van Buggenhout; Jean-Pierre Fryns
Journal:  Orphanet J Rare Dis       Date:  2006-07-10       Impact factor: 4.123

  2 in total

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