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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|October 1, 1984
Fibrochondrogenesis: lethal, autosomal recessive chondrodysplasia with distinctive cartilage histopathologyC B Whitley, L O Langer, J Ophoven, 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.The Journal of Pediatrics|March 1, 1984
Apnea and sudden unexpected death in infants with achondroplasiaR M Pauli, C I Scott, E R Wassman, 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. 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.American Journal of Medical Genetics|October 26, 1999
Polytopic anomalies with agenesis of the lower vertebral columnA Bohring, S O Lewin, J F Reynolds, et al.Pageof 26