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A new syndrome with mental retardation, short stature and an Xq duplication

✍ Scribed by Thode, A. ;Partington, M. W. ;Yip, M-Y ;Chapman, C. ;Richardson, V. F. ;Turner, G.


Book ID
102699778
Publisher
John Wiley and Sons
Year
1988
Tongue
English
Weight
573 KB
Volume
30
Category
Article
ISSN
0148-7299

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✍ Carpenter, Nancy J.; Qu, Yong; Curtis, Mary; Patil, Shivanand R. πŸ“‚ Article πŸ“… 1999 πŸ› John Wiley and Sons 🌐 English βš– 47 KB πŸ‘ 2 views

We describe a three-generation family in which X-linked mental retardation (XLMR) is associated with minor facial anomalies and brachydactyly. Two brothers and four nephews have "coarse" facial appearance, brachydactyly with widening of the distal phalanges, short stature, and moderate mental retard