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Chromosome 22q11 deletion presenting as the Potter sequence.
Devriendt K, Moerman P, Van Schoubroeck D, Vandenberghe K, Fryns JP. Devriendt K, et al. Among authors: fryns jp. J Med Genet. 1997 May;34(5):423-5. doi: 10.1136/jmg.34.5.423. J Med Genet. 1997. PMID: 9152843 Free PMC article.
Caudal deficiency sequence in 7q terminal deletion.
Schrander-Stumpel C, Schrander J, Fryns JP, Hamers G. Schrander-Stumpel C, et al. Among authors: fryns jp. Am J Med Genet. 1988 Jul;30(3):757-61. doi: 10.1002/ajmg.1320300309. Am J Med Genet. 1988. PMID: 3055986 Review.
Triplication of distal chromosome 10q.
Devriendt K, Matthijs G, Holvoet M, Schoenmakers E, Fryns JP. Devriendt K, et al. Among authors: fryns jp. J Med Genet. 1999 Mar;36(3):242-5. J Med Genet. 1999. PMID: 10204854 Free PMC article.
1,311 results