Literature DB >> 4045958

Cornelia de Lange syndrome in several members of the same family.

D Kumar, C E Blank, B L Griffiths.   

Abstract

A family is reported in which several members have the Cornelia de Lange syndrome and other members show facial dysmorphism and other features reminiscent of this syndrome. The segregation pattern is consistent with the view that the dysmorphic features (variable) are the manifestation of a single gene in heterozygous form. Chromosome abnormality was not found.

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Year:  1985        PMID： 4045958      PMCID： PMC1049453          DOI： 10.1136/jmg.22.4.296

Source DB:  PubMed          Journal:  J Med Genet        ISSN： 0022-2593            Impact factor:   6.318


  5 in total

1.  BRACHMANN/DE LANGE SYNDROME.

Authors:  J M OPITZ; A T SEGAL; R LEHRKE; H NADLER
Journal:  Lancet       Date:  1964-11-07       Impact factor: 79.321

2.  BRACHMANN/DE LANGE SYNDROME SYNDROME.

Authors:  N P BISHUN; W R MORTON
Journal:  Lancet       Date:  1965-02-20       Impact factor: 79.321

3.  An inherited chromosome aberration in a girl with signs of de Lange syndrome.

Authors:  K A Broholm; O Eeg-Olofsson; B Hall
Journal:  Acta Paediatr Scand       Date:  1968-11

4.  De Lange syndrome: report of 20 cases.

Authors:  R G McArthur; J H Edwards
Journal:  Can Med Assoc J       Date:  1967-04-29       Impact factor: 8.262

5.  Two cases of De Lange's syndrome (typus degenerativus amstelodamensis).

Authors:  S Beer; K Wallis; P Czerniak
Journal:  J Ment Defic Res       Date:  1968-06
  5 in total
  4 in total

Review 1.  Dominant paternal transmission of Cornelia de Lange syndrome: a new case and review of 25 previously reported familial recurrences.

Authors:  K L Russell; J E Ming; K Patel; L Jukofsky; M Magnusson; I D Krantz
Journal:  Am J Med Genet       Date:  2001-12-15

2.  Cornelia de Lange syndrome associated with Wilms' tumour and infantile haemangioendothelioma of the liver: report of two autopsy cases.

Authors:  M Maruiwa; Y Nakamura; K Motomura; T Murakami; M Kojiro; M Kato; M Morimatsu; S Fukuda; T Hashimoto
Journal:  Virchows Arch A Pathol Anat Histopathol       Date:  1988

3.  Cornelia de Lange syndrome.

Authors:  R M Winter
Journal:  J Med Genet       Date:  1986-04       Impact factor: 6.318

4.  Total hip reconstruction in a woman with Cornelia de Lange syndrome: a case report.

Authors:  R E Grant; J A Schneider; E J Ferguson; P B Cummings
Journal:  J Natl Med Assoc       Date:  1997-08       Impact factor: 1.798
  4 in total

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