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X/Y translocation in a family with Leri-Weill dyschondrosteosis

✍ Scribed by G. Calabrese; R. Fischetto; L. Stuppia; F. Capodiferro; R. Mingarelli; F. Causio; M. Rocchi; G.A. Rappold; G. Palka


Book ID
106137297
Publisher
Springer
Year
1999
Tongue
English
Weight
85 KB
Volume
105
Category
Article
ISSN
0340-6717

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LοΏ½ri-Weill syndrome associated with a ps
✍ Baralle, D. ;Willatt, L.R. ;Shears, D.J. πŸ“‚ Article πŸ“… 2000 πŸ› John Wiley and Sons 🌐 English βš– 168 KB πŸ‘ 2 views

A female patient of normal intelligence with short stature and Madelung deformity is reported with Le Β΄ri-Weill dyschondrosteosis and a de novo pseudodicentric X;Y translocation chromosome. The phenotype is consistent with the observed deletion of the SHOX gene by FISH and molecular studies. The Y c