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American Journal of Medical Genetics|February 1, 1989
Diagnostic criteria for Walker-Warburg syndromeW B Dobyns, R A Pagon, D Armstrong, et al.
American Journal of Medical Genetics|September 19, 1997
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 collagenP H Byers, M Duvic, M Atkinson, et al.
The Johns Hopkins Medical Journal|October 1, 1975
Mucolipidosis III (pseudo-Hurler polydystrophy): Clinical and laboratory studies in a series of 12 patientsT E Kelly, G H Thomas, H A Taylor, et al.
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