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bibliographicCitation Verheij JB, Kunze J, Osinga J, van Essen AJ, Hofstra RM. ABCD syndrome is caused by a homozygous mutation in the EDNRB gene. Am J Med Genet. 2002 Mar 15;108(3):223–5. doi: 10.1002/ajmg.10172. PMID: 11891690.
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title ABCD syndrome is caused by a homozygous mutation in the EDNRB gene
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