Literature DB >> 7192194

Familial Williams syndrome.

X Cortada, K Taysi, A F Hartmann.   

Abstract

Characteristic features of the Williams syndrome were observed in a mother and her presumably dizygotic twin daughters, suggesting either an X-linked dominant, autosomal dominant or multifactorial inheritance in this pedigree. The Williams syndrome generally has been thought to have a sporadic occurrence. The rare familial occurrence, however, suggests a possible heterogeneity in its etiology and also points out the importance of careful examination of the other family members for proper genetic counseling.

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Mesh:

Year:  1980        PMID: 7192194     DOI: 10.1111/j.1399-0004.1980.tb00866.x

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


  7 in total

Review 1.  Williams syndrome.

Authors:  J Burn
Journal:  J Med Genet       Date:  1986-10       Impact factor: 6.318

Review 2.  Noonan syndrome.

Authors:  J E Allanson
Journal:  J Med Genet       Date:  1987-01       Impact factor: 6.318

3.  Chromosome abnormalities and Williams-Beuren syndrome.

Authors:  A Gosch; R Pankau
Journal:  J Med Genet       Date:  1993-10       Impact factor: 6.318

4.  Idiopathic infantile hypercalcaemia--a continuing enigma.

Authors:  N D Martin; G J Snodgrass; R D Cohen
Journal:  Arch Dis Child       Date:  1984-07       Impact factor: 3.791

5.  De novo t(X;21)(q28;q11) in a girl with phenotypic features of Williams-Beuren syndrome.

Authors:  L Telvi; J M Pinard; R Ion; P M Sinet; A Nicole; J Feingold; O Dulac; A Pompidou; G Ponsot
Journal:  J Med Genet       Date:  1992-10       Impact factor: 6.318

6.  The calcitonin-CGRP gene in the infantile hypercalcaemia/Williams-Beuren syndrome.

Authors:  G A Hitman; L Garde; W Daoud; G J Snodgrass
Journal:  J Med Genet       Date:  1989-10       Impact factor: 6.318

7.  Williams-Beuren Syndrome: A Clinical Study of 55 Brazilian Patients and the Diagnostic Use of MLPA.

Authors:  Rachel Sayuri Honjo; Roberta Lelis Dutra; Erika Arai Furusawa; Evelin Aline Zanardo; Larissa Sampaio de Athayde Costa; Leslie Domenici Kulikowski; Debora Romeo Bertola; Chong Ae Kim
Journal:  Biomed Res Int       Date:  2015-05-18       Impact factor: 3.411

  7 in total

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