Literature DB >> 1884515

Germinal mosaicism in Crouzon syndrome. A family with three affected siblings of normal parents.

C Navarrete1, R Peña, R Peñaloza, F Salamanca.   

Abstract

Germinal mosaicism is reported in three siblings with Crouzon syndrome born to normal, unrelated parents. Other probable explanations for the features in this family are discussed.

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Year:  1991        PMID： 1884515     DOI： 10.1111/j.1399-0004.1991.tb03065.x

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


  3 in total

1.  Jackson-Weiss syndrome registered in four successive generations. The facies of Crouzon's syndrome with foot abnormalities.

Authors:  B Stanković; V Krstić; B Stankov; L Jojić; M Nagulić; G Artiko
Journal:  Doc Ophthalmol       Date:  1994       Impact factor: 2.379

2.  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

3.  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
  3 in total

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