J M Opitz
Affiliation: University of Utah
- The syndromes of Sotos and Weaver: reports and reviewJ M Opitz
Department of Pediatrics, University of Utah, Salt Lake City, USA
Am J Med Genet 79:294-304. 1998..Nevertheless, the hypothesis of locus heterogeneity is testable; at the moment we are inclined to favor the hypothesis of allele heterogeneity. An international effort is required to map, isolate, and sequence the causal gene or genes...
- RSH (so-called Smith-Lemli-Opitz) syndromeJ M Opitz
2100 Primary Children s Medical Center, University of Utah, Salt Lake City 84112 1100, USA
Curr Opin Pediatr 11:353-62. 1999..Many other defects in this pathway remain to be discovered...
- Defects of blastogenesisJohn M Opitz
University of Utah, 100 N Medical Drive, Suite 2100, Salt Lake City, UT 84113, USA
Am J Med Genet 115:269-86. 2002..If cause is unknown, the presumption of pleiotropy is less certain, and the fetus/infant may be said to have an "association" with low empiric recurrence risk...
- Osseous fragility in Marshall-Smith syndromeMohammad Diab
Department of Orthopaedics, Children s Hospital and Regional Medical Center, N E, Seattle, Washington 98105, USA
Am J Med Genet A 119:218-22. 2003..The purpose of this report is to draw attention to Marshall-Smith syndrome as one of the skeletal dysplasias characterized by osseous fragility...
- Comments on biological asymmetryJ M Opitz
Pediatrics Medical Genetics, Human Genetics, Obstetrics and Gynecology, University of Utah, Salt Lake City, 84132, USA
Am J Med Genet 101:359-69. 2001..In this paper we will attempt to enumerate the causal forms and bases of biological asymmetry...
- Opitz G/BBB syndrome in Xp22: mutations in the MID1 gene cluster in the carboxy-terminal domainK Gaudenz
Department of Pediatrics, The Children s Hospital of Philadelphia, University of Pennsylvania School of Medicine, Philadelphia, USA
Am J Hum Genet 63:703-10. 1998..These data suggest that this conserved domain of the B-box proteins may play a fundamental role in the pathogenesis of Opitz syndrome and in morphogenetic events at the midline during blastogenesis...