Literature DB >> 6627718

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

J P Fryns, A Kleczkowska, H Verresen, H van den Berghe.   

Abstract

Three achondroplastic sisters born to normal parents are reported. This report constitutes an unique example of germinal mosaicism in the human.

Entities:  

Mesh：

Year:  1983        PMID： 6627718     DOI： 10.1111/j.1399-0004.1983.tb02232.x

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


  12 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.  Germinal mosaicism and risk calculation in X-linked diseases.

Authors:  M Jeanpierre
Journal:  Am J Hum Genet       Date:  1992-05       Impact factor: 11.025

3.  Germ-line mosaicism simulates genetic heterogeneity in Wiskott-Aldrich syndrome.

Authors:  B Arveiler; G de Saint-Basile; A Fischer; C Griscelli; J L Mandel
Journal:  Am J Hum Genet       Date:  1990-05       Impact factor: 11.025

4.  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 5.  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

6.  Perinatal lethal osteogenesis imperfecta (OI type II): a biochemically heterogeneous disorder usually due to new mutations in the genes for type I collagen.

Authors:  P H Byers; P Tsipouras; J F Bonadio; B J Starman; R C Schwartz
Journal:  Am J Hum Genet       Date:  1988-02       Impact factor: 11.025

7.  Germinal mosaicism in Crouzon syndrome.

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

8.  Achondroplasia in sibs of normal parents.

Authors:  N Philip; M Auger; J F Mattei; F Giraud
Journal:  J Med Genet       Date:  1988-12       Impact factor: 6.318

9.  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

10.  Somatic origin of inherited haemophilia A.

Authors:  A H Bröcker-Vriends; E Briët; J C Dreesen; B Bakker; P Reitsma; H Pannekoek; J J van de Kamp; P L Pearson
Journal:  Hum Genet       Date:  1990-08       Impact factor: 4.132
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