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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: pagon ra. Am J Med Genet. 1989 Feb;32(2):195-210. doi: 10.1002/ajmg.1320320213. Am J Med Genet. 1989. PMID: 2494887
Simpson-Golabi-Behmel syndrome: genotype/phenotype analysis of 18 affected males from 7 unrelated families.
Hughes-Benzie RM, Pilia G, Xuan JY, Hunter AG, Chen E, Golabi M, Hurst JA, Kobori J, Marymee K, Pagon RA, Punnett HH, Schelley S, Tolmie JL, Wohlferd MM, Grossman T, Schlessinger D, MacKenzie AE. Hughes-Benzie RM, et al. Among authors: pagon ra. Am J Med Genet. 1996 Dec 11;66(2):227-34. doi: 10.1002/(SICI)1096-8628(19961211)66:2<227::AID-AJMG20>3.0.CO;2-U. Am J Med Genet. 1996. PMID: 8958336
Autosomal dominant inheritance of Barber-Say syndrome.
Dinulos MB, Pagon RA. Dinulos MB, et al. Among authors: pagon ra. Am J Med Genet. 1999 Sep 3;86(1):54-6. doi: 10.1002/(sici)1096-8628(19990903)86:1<54::aid-ajmg10>3.0.co;2-2. Am J Med Genet. 1999. PMID: 10440829
Possible autosomal-recessive ocular coloboma.
Pagon RA, Kalina RE, Lechner DJ. Pagon RA, et al. Am J Med Genet. 1981;9(3):189-93. doi: 10.1002/ajmg.1320090304. Am J Med Genet. 1981. PMID: 7282780
Hepatic involvement in the Bardet-Biedl syndrome.
Pagon RA, Haas JE, Bunt AH, Rodaway KA. Pagon RA, et al. Am J Med Genet. 1982 Dec;13(4):373-81. doi: 10.1002/ajmg.1320130405. Am J Med Genet. 1982. PMID: 7158637 No abstract available.
924 results