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A fifth locus for Bardet-Biedl syndrome maps to chromosome 2q31.
Young TL, Penney L, Woods MO, Parfrey PS, Green JS, Hefferton D, Davidson WS. Young TL, et al. Am J Hum Genet. 1999 Mar;64(3):900-4. doi: 10.1086/302301. Am J Hum Genet. 1999. PMID: 10053027 Free PMC article. No abstract available.
Arrhythmogenic right ventricular cardiomyopathy type 5 is a fully penetrant, lethal arrhythmic disorder caused by a missense mutation in the TMEM43 gene.
Merner ND, Hodgkinson KA, Haywood AF, Connors S, French VM, Drenckhahn JD, Kupprion C, Ramadanova K, Thierfelder L, McKenna W, Gallagher B, Morris-Larkin L, Bassett AS, Parfrey PS, Young TL. Merner ND, et al. Among authors: young tl. Am J Hum Genet. 2008 Apr;82(4):809-21. doi: 10.1016/j.ajhg.2008.01.010. Epub 2008 Feb 28. Am J Hum Genet. 2008. PMID: 18313022 Free PMC article.
Profound, prelingual nonsyndromic deafness maps to chromosome 10q21 and is caused by a novel missense mutation in the Usher syndrome type IF gene PCDH15.
Doucette L, Merner ND, Cooke S, Ives E, Galutira D, Walsh V, Walsh T, MacLaren L, Cater T, Fernandez B, Green JS, Wilcox ER, Shotland LI, Li XC, Lee M, King MC, Young TL. Doucette L, et al. Among authors: young tl. Eur J Hum Genet. 2009 May;17(5):554-64. doi: 10.1038/ejhg.2008.231. Epub 2008 Dec 24. Eur J Hum Genet. 2009. PMID: 19107147 Free PMC article.
348 results