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American Journal of Medical Genetics|April 1, 1984
Tandem dup (1p) within the short arm of chromosome 1 in a child with ambiguous genitalia and multiple congenital anomaliesB R Elejalde, J M Opitz, M M de Elejalde, et al.Clinical Genetics|May 11, 1975
Familial Kallmann syndrome with unilateral renal aplasiaJ D Wegenke, D T Uehling, J B Wear, et al.Human Genetics|January 1, 1981
The "cat eye syndrome": dicentric small marker chromosome probably derived from a no.22 (tetrasomy 22pter to q11) associated with a characteristic phenotype. Report of 11 patients and delineation of the clinical pictureA Schinzel, W Schmid, M Fraccaro, et al.American Journal of Human Genetics|August 27, 1998
Opitz G/BBB syndrome in Xp22: mutations in the MID1 gene cluster in the carboxy-terminal domainK Gaudenz, E Roessler, N Quaderi, et al.American Journal of Medical Genetics|January 1, 1981
Further delineation of the C (trigonocephaly) syndromeR M Antley, D S Hwang, W Theopold, et al.American Journal of Medical Genetics|July 31, 2001
Meier-Gorlin syndrome: report of eight additional cases and reviewE M Bongers, J M Opitz, A Fryer, et al.Nature Genetics|November 14, 1997
Opitz G/BBB syndrome, a defect of midline development, is due to mutations in a new RING finger gene on Xp22N A Quaderi, S Schweiger, K Gaudenz, et al.Nature Genetics|December 1, 1995
Opitz syndrome is genetically heterogeneous, with one locus on Xp22, and a second locus on 22q11.2N H Robin, G J Feldman, A L Aronson, et al.American Journal of Medical Genetics|January 1, 1981
The dup(3q) syndrome: report of eight cases and review of the literatureP Steinbach, W N Adkins, H Caspar, et al.American Journal of Medical Genetics. Part A|February 1, 2017
A de novo splice site mutation in CASK causes FG syndrome-4 and congenital nystagmusP Dunn, G P Prigatano, S Szelinger, et al.Pageof 19