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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Hoofdauteurs: Mitchell, Sheri, Siegel, Dawn H., Shieh, Joseph T., Stevenson, David A., Grimmer, J. Fredrik, Lewis, Tracey, Metry, Denise, Frieden, Ilona, Blei, Francine, Kayserili, Hulya, Drolet, Beth A., Bayrak-Toydemir, Pinar
Formaat: Artigo
Taal:Inglês
Gepubliceerd in: 2012
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Article
Online toegang: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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