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Mutations in Either TUBB or MAPRE2 Cause Circumferential Skin Creases Kunze Type.
Am J Hum Genet. 2015 Dec 3;97(6):790-800. doi: 10.1016/j.ajhg.2015.10.014.
Am J Hum Genet. 2015.
PMID: 26637975
Free PMC article.
Circumferential skin creases, cleft palate, typical face, intellectual disability and growth delay: "circumferential skin creases Kunze type".
Wouters L, Rodriguez Rodriguez CM, Dapena EP, Poorten VV, Devriendt K, Van Esch H.
Wouters L, et al. Among authors: rodriguez rodriguez cm.
Eur J Med Genet. 2011 May-Jun;54(3):236-40. doi: 10.1016/j.ejmg.2011.01.003. Epub 2011 Jan 22.
Eur J Med Genet. 2011.
PMID: 21262397
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[Dyggve-Melchior-Clausen syndrome, diagnostic difficulty due to it similarity to Morquio disease].
Rodríguez Rodríguez CM, Pineda Marfa M, Duque R, Cormier-Daire V.
Rodríguez Rodríguez CM, et al.
Neurologia. 2007 Mar;22(2):126-9.
Neurologia. 2007.
PMID: 17323241
Spanish.
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