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Candidate Locus Analysis for PHACE Syndrome
PHACE syndrome (OMIM #606519) is a neurocutaneous syndrome of unknown etiology and pathogenesis. We report on an individual with PHACE syndrome with a complete deletion of SLC35B4 on 7q33. In order to further analyze this region, SLC35B4 was sequenced for 33 individuals with PHACE syndrome and one p...
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| Main Authors: | , , , , , , , , , , , |
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| Format: | Artigo |
| Jezik: | Inglês |
| Izdano: |
2012
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| Teme: | |
| Online dostop: | https://ncbi.nlm.nih.gov/pmc/articles/PMC3356486/ https://ncbi.nlm.nih.gov/pubmed/22544659 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/ajmg.a.35341 |
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