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A complex rearrangement, including a deleted 8q, in a case of Langer-Giedion syndrome

✍ Scribed by S. Schwartz; J. H. Beisel; S. R. Panny; M. M. Cohen


Book ID
119981509
Publisher
John Wiley and Sons
Year
2008
Tongue
English
Weight
538 KB
Volume
27
Category
Article
ISSN
0009-9163

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Tibial hemimelia in Langer-Giedion syndr
✍ Stevens, Cathy A.; Moore, Cynthia A. πŸ“‚ Article πŸ“… 1999 πŸ› John Wiley and Sons 🌐 English βš– 18 KB πŸ‘ 2 views

We report on a girl with Langer-Giedion syndrome or tricho-rhino-phalangeal syndrome, type II (TRPS II) with deletion on 8q, and the unusual findings of bilateral tibial hemimelia and unilateral absence of the ulna. An 8-year-old boy with TRPS II with bilateral tibial hemimelia was reported by Turle