Literature DB >> 2716037

Thanatophoric dysplasia in identical twins.

I D Young1, I Patel, A C Lamont.   

Abstract

Female twins concordant for thanatophoric dysplasia are presented. Monozygosity was confirmed using minisatellite DNA genetic fingerprinting. The evidence supporting new dominant mutations as the likely cause of thanatophoric dysplasia is reviewed.

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Mesh：

Year:  1989        PMID： 2716037      PMCID： PMC1017304          DOI： 10.1136/jmg.26.4.276

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


  13 in total

1.  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

2.  Letter: Thanatophoric dwarfism in triplets.

Authors:  A Sabry
Journal:  Lancet       Date:  1974-08-31       Impact factor: 79.321

3.  The genetics of thanatophoric dwarfism.

Authors:  S D Pena; H O Goodman
Journal:  Pediatrics       Date:  1973-01       Impact factor: 7.124

4.  Achondroplasia and thanatophoric dwarfism in the newborn.

Authors:  R Harris; J T Patton
Journal:  Clin Genet       Date:  1971       Impact factor: 4.438

5.  Cloverleaf skull and thanatophoric dwarfism. Report of four cases, two in the same sibship.

Authors:  M W Partington; F Gonzales-Crussi; S G Khakee; D G Wollin
Journal:  Arch Dis Child       Date:  1971-10       Impact factor: 3.791

6.  Use of minisatellite DNA probes for determination of twin zygosity at birth.

Authors:  A V Hill; A J Jeffreys
Journal:  Lancet       Date:  1985 Dec 21-28       Impact factor: 79.321

7.  Lethal malformations and perinatal mortality: a 10 year review with comparison of ethnic differences.

Authors:  I D Young; M Clarke
Journal:  Br Med J (Clin Res Ed)       Date:  1987-07-11

8.  Thanatophoric dysplasia of identical twins.

Authors:  D Sato; Y Hosokawa; Y Nakamura; T Mukae; T Nakashima; Y Komatsu; S Kabashima
Journal:  Acta Pathol Jpn       Date:  1981-09

9.  Thanatophoric dysplasia of identical twins.

Authors:  F Serville; D Carles; P Maroteaux
Journal:  Am J Med Genet       Date:  1984-03

10.  Lethal neonatal chondrodysplasias in the West of Scotland 1970-1983 with a description of a thanatophoric, dysplasialike, autosomal recessive disorder, Glasgow variant.

Authors:  J M Connor; R A Connor; E M Sweet; A A Gibson; W J Patrick; M B McNay; D H Redford
Journal:  Am J Med Genet       Date:  1985-10
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  2 in total

1.  De novo 1;10 balanced translocation in an infant with thanatophoric dysplasia: a clue to the locus of the candidate gene.

Authors:  J H Hersh; F F Yen; S C Peiper; M J Barch; O A Yacoub; D H Voss; J L Roberts
Journal:  J Med Genet       Date:  1995-04       Impact factor: 6.318

2.  Thanatophoric dysplasia in identical twins.

Authors:  A S Knisely
Journal:  J Med Genet       Date:  1989-11       Impact factor: 6.318
  2 in total

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