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Evidence for variable gene expression in a large inbred kindred with autosomal recessive spondylocostal dysostosis

Autor: R J Thwaites, P D Turnpenny, F N Boulos

Publikováno v: Journal of Medical Genetics. 28:27-33

Seven members of a large inbred kindred with autosomal recessive spondylocostal dysostosis were examined clinically, radiographically, and sonographically. The subjects were three adults, one adolescent, and three children under 3 years of age. One c

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::259e5db930a1a2864b355418a47750b0
https://doi.org/10.1136/jmg.28.1.27

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Kyphomelic dysplasia: the first 10 cases

Autor: R A Dakwar, F N Boulos, P D Turnpenny

Publikováno v: Journal of medical genetics. 27(4)

We report two sibs, the ninth and tenth cases of a distinctive familial skeletal dysplasia. Designated kyphomelic dysplasia, the condition is a short limbed dwarfism characterised by very short angulated femora, variable bowing of other long bones, i

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::04fa59992788951f63940c7988e6e9c8
https://pubmed.ncbi.nlm.nih.gov/2109078

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