Literature DB >> 3236371

Achondroplasia in sibs of normal parents.

N Philip1, M Auger, J F Mattei, F Giraud.   

Abstract

A new case of recurrent achondroplasia in sibs of normal parents is reported. Two sisters and a half sister were affected. Various mechanisms can be postulated to account for unexpected recurrence of achondroplasia in the same sibship. Germinal mosaicism and unstable premutation are discussed here.

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Year:  1988        PMID： 3236371      PMCID： PMC1051619          DOI： 10.1136/jmg.25.12.857

Source DB:  PubMed          Journal:  J Med Genet        ISSN： 0022-2593            Impact factor:   6.318


  8 in total

1.  Achondroplasia in two sisters with normal parents.

Authors:  P Bowen
Journal:  Birth Defects Orig Artic Ser       Date:  1974

Review 2.  Gonadal mosaicism in pseudoachondroplasia.

Authors:  J G Hall; J P Dorst; J Rotta; V A McKusick
Journal:  Am J Med Genet       Date:  1987-09

3.  Genetics of tuberous sclerosis.

Authors:  J G Hall; P H Byers
Journal:  Lancet       Date:  1987-03-28       Impact factor: 79.321

4.  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

5.  "Unstable premutation" in achondroplasia: penetrance vs phenotrance.

Authors:  J M Opitz
Journal:  Am J Med Genet       Date:  1984-10

6.  Familial recurrence of achondroplasia.

Authors:  J S Fitzsimmons
Journal:  Am J Med Genet       Date:  1985-11

7.  Germinal mosaicism in Apert syndrome.

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

8.  Achondroplasia: unexpected familial recurrence.

Authors:  C A Reiser; R M Pauli; J G Hall
Journal:  Am J Med Genet       Date:  1984-10
  8 in total
  4 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

Review 3.  Neurological Manifestations of Achondroplasia.

Authors:  John B Bodensteiner
Journal:  Curr Neurol Neurosci Rep       Date:  2019-11-28       Impact factor: 5.081

4.  De novo achondroplasia causing four consecutive unsuccessful pregnancies: a case report.

Authors:  Anthony Osita Igwegbe; George Uchenna Eleje; Ikechukwu Francis Ugwueke
Journal:  J Med Case Rep       Date:  2012-08-30
  4 in total

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