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Carney complex with PRKAR1A gene mutation: A case report and literature review
RATIONALE: Carney complex (CNC) is a multiple neoplasia syndrome with autosomal dominant inheritance. CNC is characterized by the presence of myxomas, spotty skin pigmentation, and endocrine overactivity. No direct correlation has been established between disease-causing mutations and phenotype. PAT...
Αποθηκεύτηκε σε:
| Τόπος έκδοσης: | Medicine (Baltimore) |
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| Κύριοι συγγραφείς: | , , , , , , , , , , , , |
| Μορφή: | Artigo |
| Γλώσσα: | Inglês |
| Έκδοση: |
Wolters Kluwer Health
2017
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| Θέματα: | |
| Διαθέσιμο Online: | https://ncbi.nlm.nih.gov/pmc/articles/PMC5815708/ https://ncbi.nlm.nih.gov/pubmed/29390296 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1097/MD.0000000000008999 |
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