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Different Skeletal Phenotypes in a Mother and Two Daughters with Short Stature Homeobox-Containing Haploinsufficiency
Haploinsufficiency of the short stature homeobox-containing (SHOX) gene causes Turner skeletal features such as short metacarpals, cubitus valgus, and Madelung deformity. We report the clinical findings of a Japanese family consisting of two daughters with SHOX haploinsufficiency (46, X, del(X) (p.2...
Αποθηκεύτηκε σε:
| Κύριοι συγγραφείς: | , , |
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| Μορφή: | Artigo |
| Γλώσσα: | Inglês |
| Έκδοση: |
The Japanese Society for Pediatric Endocrinology
2007
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| Θέματα: | |
| Διαθέσιμο Online: | https://ncbi.nlm.nih.gov/pmc/articles/PMC4004891/ https://ncbi.nlm.nih.gov/pubmed/24790348 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1297/cpe.16.69 |
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