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Lethal skeletal dysplasia owing to double heterozygosity for achondroplasia and spondyloepiphyseal dysplasia congenita.

  • Published:1992-11-01 Issue:11 Volume:29 Page:831-833
  • ISSN:1468-6244
  • Container-title:Journal of Medical Genetics
  • language:en
  • Short-container-title:Journal of Medical Genetics

Author:

Young I D,Ruggins N R,Somers J M,Zuccollo J M,Rutter N

Publisher

BMJ

Subject

Genetics(clinical),Genetics

Reference10 articles.

1. A new estimate of the achondroplasia mutation rate;Gardner, R.J.M.;Clin Genet,1977

2. Two clinical variants of spondyloepiphyseal dysplasia congenita;Wynne-Davies, R.; Hall, C.;J Bone joint Surg [Br7,1982

3. Dominance and homozygosity in man;Pauli, R.M.;Am J Med Genet,1983

4. Homozygous achondroplasia with survival beyond infancy;Pauli, R.M.; Conroy, M.M.; Langer, L.O.;Am I Med Genet,1983

5. Achondroplasia-hypochondroplasia complex;Sommer, A.; Young-Wee, T.; Frye, T.;AmJ Med Genet,1987

Cited by 11 articles. 订阅此论文施引文献 订阅此论文施引文献，注册后可以免费订阅5篇论文的施引文献，订阅后可以查看论文全部施引文献

1. Achondroplasia: a comprehensive clinical review;Orphanet Journal of Rare Diseases;2019-01-03

2. Novel phenotype of achondroplasia due to biallelic FGFR3 pathogenic variants;American Journal of Medical Genetics Part A;2018-07

3. Skeletal Dysplasias;Clinics in Perinatology;2015-06

4. Lung hypoplasia and severe pulmonary hypertension in an infant with double heterozygosity for spondyloepiphyseal dysplasia congenita and achondroplasia;Clinical Genetics;2008-06-28

5. S;Taybi and Lachman's Radiology of Syndromes, Metabolic Disorders and Skeletal Dysplasias;2007
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