Literature DB >> 2323783

Germinal mosaicism in Crouzon syndrome.

S Kreiborg1, M M Cohen.   

Abstract

Two sibs with classic Crouzon syndrome of the same mother but different fathers are presented as an example of germinal mosaicism in a known autosomal dominant disorder. The mother and both fathers were completely normal.

Entities:  

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Year:  1990        PMID： 2323783     DOI： 10.1007/bf00195827

Source DB:  PubMed          Journal:  Hum Genet        ISSN： 0340-6717            Impact factor:   4.132


  10 in total

1.  Craniofacial dysostosis of Crouzon; a case report and pedigree with emphasis on heredity.

Authors:  J G SHILLER
Journal:  Pediatrics       Date:  1959-01       Impact factor: 7.124

2.  Variable expressivity of Crouzon's syndrome within a family.

Authors:  S Kreiborg; B L Jensen
Journal:  Scand J Dent Res       Date:  1977-03

3.  Letter: The Crouzon syndrome.

Authors:  K L Jones; M M Cohen
Journal:  J Med Genet       Date:  1973-12       Impact factor: 6.318

4.  Recurrence risks for germinal mosaics.

Authors:  D L Hartl
Journal:  Am J Hum Genet       Date:  1971-03       Impact factor: 11.025

5.  Germinal mosaicism in achondroplasia: a family with 3 affected siblings of normal parents.

Authors:  J P Fryns; A Kleczkowska; H Verresen; H van den Berghe
Journal:  Clin Genet       Date:  1983-09       Impact factor: 4.438

6.  Crouzon Syndrome. A clinical and roentgencephalometric study.

Authors:  S Kreiborg
Journal:  Scand J Plast Reconstr Surg Suppl       Date:  1981

7.  Germinal mosaicism in Crouzon syndrome.

Authors:  B R Rollnick
Journal:  Clin Genet       Date:  1988-03       Impact factor: 4.438

8.  Germinal mosaicism in Apert syndrome.

Authors:  J E Allanson
Journal:  Clin Genet       Date:  1986-05       Impact factor: 4.438

9.  An autosomal recessive form of craniofacial dysostosis (the Crouzon syndrome).

Authors:  R C Juberg; S R Chambers
Journal:  J Med Genet       Date:  1973-03       Impact factor: 6.318

10.  Craniosynostosis, midfacial hypoplasia and foot abnormalities: an autosomal dominant phenotype in a large Amish kindred.

Authors:  C E Jackson; L Weiss; W A Reynolds; T F Forman; J A Peterson
Journal:  J Pediatr       Date:  1976-06       Impact factor: 4.406
  10 in total
  2 in total

1.  Germline and somatic mosaicism for FGFR2 mutation in the mother of a child with Crouzon syndrome: Implications for genetic testing in "paternal age-effect" syndromes.

Authors:  Anne Goriely; Helen Lord; Jasmine Lim; David Johnson; Tracy Lester; Helen V Firth; Andrew O M Wilkie
Journal:  Am J Med Genet A       Date:  2010-08       Impact factor: 2.802

2.  A comprehensive review of the genetic basis of cleft lip and palate.

Authors:  Sarvraj Singh Kohli; Virinder Singh Kohli
Journal:  J Oral Maxillofac Pathol       Date:  2012-01
  2 in total

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