Φορτώνει......
Co-occurrence of genomic imbalances on Xp22.1 in the SHOX region and 15q25.2 in a girl with short stature, precocious puberty, urogenital malformations and bone anomalies
BACKGROUND: Mutations of SHOX represent the most frequent monogenic cause of short stature and related syndromes. The genetic alterations include point mutations and deletions/duplications spanning both SHOX and its regulatory regions, although microrearrangements are confined to either the downstre...
Αποθηκεύτηκε σε:
| Τόπος έκδοσης: | BMC Med Genomics |
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| Κύριοι συγγραφείς: | , , , , , , , |
| Μορφή: | Artigo |
| Γλώσσα: | Inglês |
| Έκδοση: |
BioMed Central
2019
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| Θέματα: | |
| Διαθέσιμο Online: | https://ncbi.nlm.nih.gov/pmc/articles/PMC6327496/ https://ncbi.nlm.nih.gov/pubmed/30626445 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/s12920-018-0445-8 |
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