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Autosomal-dominant microtia linked to five tandem copies of a copy-number-variable region at chromosome 4p16.
Balikova I, Martens K, Melotte C, Amyere M, Van Vooren S, Moreau Y, Vetrie D, Fiegler H, Carter NP, Liehr T, Vikkula M, Matthijs G, Fryns JP, Casteels I, Devriendt K, Vermeesch JR. Balikova I, et al. Among authors: fryns jp. Am J Hum Genet. 2008 Jan;82(1):181-7. doi: 10.1016/j.ajhg.2007.08.001. Am J Hum Genet. 2008. PMID: 18179897 Free PMC article.
Primary autosomal recessive microcephaly: MCPH5 maps to 1q25-q32.
Jamieson CR, Fryns JP, Jacobs J, Matthijs G, Abramowicz MJ. Jamieson CR, et al. Among authors: fryns jp. Am J Hum Genet. 2000 Dec;67(6):1575-7. doi: 10.1086/316909. Epub 2000 Nov 6. Am J Hum Genet. 2000. PMID: 11067780 Free PMC article.
1,311 results