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3. Uniparental disomy as an unexpected cause of Meckel-Gruber syndrome: report of a case. Bruechle NO; Steuernagel P; Zerres K; Kurth I; Eggermann T; Knopp C Pediatr Nephrol; 2017 Oct; 32(10):1989-1992. PubMed ID: 28620746 [TBL] [Abstract][Full Text] [Related]
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9. Identification of a novel MKS locus defined by TMEM107 mutation. Shaheen R; Almoisheer A; Faqeih E; Babay Z; Monies D; Tassan N; Abouelhoda M; Kurdi W; Al Mardawi E; Khalil MM; Seidahmed MZ; Alnemer M; Alsahan N; Sogaty S; Alhashem A; Singh A; Goyal M; Kapoor S; Alomar R; Ibrahim N; Alkuraya FS Hum Mol Genet; 2015 Sep; 24(18):5211-8. PubMed ID: 26123494 [TBL] [Abstract][Full Text] [Related]
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