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4. A de novo 1q23.3-q24.2 deletion combined with a GORAB missense mutation causes a distinctive phenotype with cutis laxa. Al-Bughaili M; Neuhann TM; Flöttmann R; Mundlos S; Spielmann M; Kornak U; Fischer-Zirnsak B J Hum Genet; 2017 Feb; 62(2):325-328. PubMed ID: 27604556 [TBL] [Abstract][Full Text] [Related]
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