Phenotypic characterization of patients with deletions in the 3’-flanking SHOX region
Context. Leri–Weill dyschondrosteosis is a clinically variable skeletal dysplasia, caused by SHOX deletion or mutations, or a deletion of enhancer sequences in the 3’-flanking region. Recently, a 47.5 kb recurrent PAR1 deletion downstream of SHOX was reported, but its frequency and clinical importan...
| Main Authors: | , , , , , , , , , , , |
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| Format: | Article |
| Language: | English |
| Published: |
PeerJ Inc.
2013-02-01
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| Series: | PeerJ |
| Subjects: | |
| Online Access: | https://peerj.com/articles/35.pdf |