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Clinical and molecular findings in a Moroccan patient with popliteal pterygium syndrome: a case report
INTRODUCTION: Popliteal pterygium syndrome is a congenital malformation that includes orofacial, musculoskeletal and genitourinary anomalies. It is a rare autosomal dominant disorder due to a mutation of the IRF6 gene on 1q32.2. CASE PRESENTATION: A one-month-old Moroccan baby boy was diagnosed with...
Αποθηκεύτηκε σε:
| Τόπος έκδοσης: | J Med Case Rep |
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| Κύριοι συγγραφείς: | , , , , , |
| Μορφή: | Artigo |
| Γλώσσα: | Inglês |
| Έκδοση: |
BioMed Central
2014
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| Θέματα: | |
| Διαθέσιμο Online: | https://ncbi.nlm.nih.gov/pmc/articles/PMC4320515/ https://ncbi.nlm.nih.gov/pubmed/25547932 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/1752-1947-8-471 |
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