A five-base pair deletion in the sedlin gene causes spondyloepiphyseal dysplasia tarda in a six-generation Arkansas kindred

Autor: Mumm, S., Christie, P. T., Finnegan, P., Jones, J., Dixon, P. H., Pannett, A. A. J., Harding, B., Gottesman, G. S., Rajesh Thakker, Whyte, M. P.

Publikováno v: Scopus-Elsevier

A six-generation kindred from Arkansas with X-linked recessive spondyloepiphyseal dysplasia tarda (SEDT) was investigated by genetic linkage and mutation analysis. SEDT had been mapped on the X-chromosome (Xp22.2), and the clinical and radiographic e

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b49ad1b99126a7de04304f4ef0bcff7e
https://ora.ox.ac.uk/objects/uuid:db9a4fc3-7aee-478f-9203-5e68b2a6674e

Metachondromatosis: report of a family with facial features mildly resembling trichorhinophalangeal syndrome.

Autor: Herman, T. E., Chines, A., McAlister, W. H., Gottesman, G. S., Eddy, M. C., Whyte, M. P.

Publikováno v: Pediatric Radiology; May1997, Vol. 27 Issue 5, p436-441, 6p

Tento výsledek nelze pro nepřihlášené uživatele zobrazit.
K zobrazení výsledku je třeba se přihlásit.

Say-Meyer syndrome: A new case with magnetic resonance imaging of the brain, cardiac abnormality and X-linked dominant inheritance pattern

Autor: Gottesman, G S, Silhavy, J A, Singh, G K, Marlin, D S

Publikováno v: Genetics in Medicine; January 2000, Vol. 2 Issue: 1 p78-78, 1p

Preonset studies of spondyloepiphyseal dysplasia tarda caused by a novel 2-base pair deletion in SEDL encoding sedlin.

Autor: Mumm S; Division of Bone and Mineral Diseases, Washington University School of Medicine at Barnes-Jewish Hospital and Barnes-Jewish Hospital Research Institute, St Louis, Missouri 63110, USA., Zhang X, Gottesman GS, McAlister WH, Whyte MP

Publikováno v: Journal of bone and mineral research : the official journal of the American Society for Bone and Mineral Research [J Bone Miner Res] 2001 Dec; Vol. 16 (12), pp. 2245-50.