Literature DB >> 1756607

X-linked mental retardation with bilateral clasped thumbs: report of another affected family.

R Straussberg1, I Blatt, N Brand, D Kessler, M B Katznelson, R M Goodman.   

Abstract

A Sephardi Jewish family is reported in which the two brothers had mental retardation, lower limb spasticity and bilateral clasped thumbs anomaly. This X-linked recessive disorder has only been reported twice. We believe this syndrome comprises a distinct entity among the X-linked mental retardation syndromes.

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Year:  1991        PMID： 1756607     DOI： 10.1111/j.1399-0004.1991.tb03105.x

Source DB:  PubMed          Journal:  Clin Genet        ISSN： 0009-9163            Impact factor:   4.438


  3 in total

1.  CRASH syndrome: mutations in L1CAM correlate with severity of the disease.

Authors:  M Yamasaki; P Thompson; V Lemmon
Journal:  Neuropediatrics       Date:  1997-06       Impact factor: 1.947

2.  Genotype-phenotype correlation in L1 associated diseases.

Authors:  E Fransen; G Van Camp; R D'Hooge; L Vits; P J Willems
Journal:  J Med Genet       Date:  1998-05       Impact factor: 6.318

3.  Mutations in L1-CAM in two families with X linked complicated spastic paraplegia, MASA syndrome, and HSAS.

Authors:  J C Ruiz; H Cuppens; E Legius; J P Fryns; T Glover; P Marynen; J J Cassiman
Journal:  J Med Genet       Date:  1995-07       Impact factor: 6.318
  3 in total

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