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Ehlers-Danlos syndrome type VIIA and VIIB result from splice-junction mutations or genomic deletions that involve exon 6 in the COL1A1 and COL1A2 genes of type I collagen.
Byers PH, Duvic M, Atkinson M, Robinow M, Smith LT, Krane SM, Greally MT, Ludman M, Matalon R, Pauker S, Quanbeck D, Schwarze U. Byers PH, et al. Among authors: robinow m. Am J Med Genet. 1997 Oct 3;72(1):94-105. doi: 10.1002/(sici)1096-8628(19971003)72:1<94::aid-ajmg20>3.0.co;2-o. Am J Med Genet. 1997. PMID: 9295084
New syndrome.
Robinow M, Beemer FA. Robinow M, et al. Am J Med Genet. 1990 Jul;36(3):375. doi: 10.1002/ajmg.1320360336. Am J Med Genet. 1990. PMID: 2363445 No abstract available.
Genée-Wiedemann syndrome in a family.
Robinow M, Chen H. Robinow M, et al. Am J Med Genet. 1990 Oct;37(2):293. doi: 10.1002/ajmg.1320370232. Am J Med Genet. 1990. PMID: 2248304 No abstract available.
Transient neonatal arthrogryposis: another case.
Robinow M, Miller M. Robinow M, et al. Am J Med Genet. 1996 Dec 30;66(4):475. doi: 10.1002/(SICI)1096-8628(19961230)66:4<475::AID-AJMG19>3.0.CO;2-R. Am J Med Genet. 1996. PMID: 8989472 No abstract available.
Comment on COVESDEM syndrome.
Robinow M. Robinow M. Am J Med Genet. 1987 Jul;27(3):725. doi: 10.1002/ajmg.1320270329. Am J Med Genet. 1987. PMID: 3631143 No abstract available.
Diagnostic criteria for Walker-Warburg syndrome.
Dobyns WB, Pagon RA, Armstrong D, Curry CJ, Greenberg F, Grix A, Holmes LB, Laxova R, Michels VV, Robinow M, et al. Dobyns WB, et al. Among authors: robinow m. Am J Med Genet. 1989 Feb;32(2):195-210. doi: 10.1002/ajmg.1320320213. Am J Med Genet. 1989. PMID: 2494887
73 results