Literature DB >> 3359675

Germinal mosaicism in Crouzon syndrome.

B R Rollnick1.   

Abstract

Two brothers with Crouzon craniofacial dysostosis syndrome born to normal unrelated parents are described. Paternity studies show the probability of paternity is 99.6%. This report appears to represent the first example of germinal mosaicism in Crouzon syndrome.

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Year:  1988        PMID： 3359675     DOI： 10.1111/j.1399-0004.1988.tb03429.x

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


  8 in total

1.  Theoretical considerations on germline mosaicism in Duchenne muscular dystrophy.

Authors:  T Grimm; B Müller; C R Müller; M Janka
Journal:  J Med Genet       Date:  1990-11       Impact factor: 6.318

2.  Molecular genetic analysis of factor X deficiency: gene deletion and germline mosaicism.

Authors:  K Wieland; D S Millar; C B Grundy; R S Mibashan; V V Kakkar; D N Cooper
Journal:  Hum Genet       Date:  1991-01       Impact factor: 4.132

Review 3.  Review and hypotheses: somatic mosaicism: observations related to clinical genetics.

Authors:  J G Hall
Journal:  Am J Hum Genet       Date:  1988-10       Impact factor: 11.025

4.  Germinal mosaicism in Crouzon syndrome.

Authors:  S Kreiborg; M M Cohen
Journal:  Hum Genet       Date:  1990-04       Impact factor: 4.132

5.  Pitfalls in counselling: the craniosynostoses.

Authors:  R Marini; K Temple; L Chitty; S Genet; M Baraitser
Journal:  J Med Genet       Date:  1991-02       Impact factor: 6.318

6.  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

7.  Parental somatic and germ-line mosaicism for a multiexon deletion with unusual endpoints in a type III collagen (COL3A1) allele produces Ehlers-Danlos syndrome type IV in the heterozygous offspring.

Authors:  D M Milewicz; A M Witz; A C Smith; D K Manchester; G Waldstein; P H Byers
Journal:  Am J Hum Genet       Date:  1993-07       Impact factor: 11.025

8.  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
  8 in total

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