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PubMed (OMIM) for id: 4811

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Mutations in extracellular matrix genes NID1 and LAMC1 cause autosomal dominant Dandy-Walker malformation and occipital cephaloceles.
Darbro BW, Mahajan VB, Gakhar L, Skeie JM, Campbell E, Wu S, Bing X, Millen KJ, Dobyns WB, Kessler JA, Jalali A, Cremer J, Segre A, Manak JR, Aldinger KA, Suzuki S, Natsume N, Ono M, Hai HD, Viet le T, Loddo S, Valente EM, Bernardini L, Ghonge N, Ferguson PJ, Bassuk AG. Darbro BW, et al. Hum Mutat. 2013 Aug;34(8):1075-9. doi: 10.1002/humu.22351. Epub 2013 May 28. Hum Mutat. 2013. PMID: 23674478 Free PMC article.
Autosomal dominant occipital cephalocele.
Bassuk AG, McLone D, Bowman R, Kessler JA. Bassuk AG, et al. Neurology. 2004 May 25;62(10):1888-90. doi: 10.1212/01.wnl.0000125255.90915.5c. Neurology. 2004. PMID: 15159504
13 results