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Birth Defects Original Article Series|January 1, 1977
The WT syndrome--a "new" autosomal dominant pleiotropic trait of radial/ulnar hypoplasia with high risk of bone marrow failure and/or leukemiaC H Gonzalez, M V Durkin-Stamm, N F Geimer, et al.The Journal of Pediatrics|December 1, 1977
Heterogeneity of nonlethal severe short-limbed dwarfismG Romeo, J Zonana, D L Rimoin, et al.American Journal of Medical Genetics|December 1, 1990
"C" trigonocephaly syndrome: clinical variability and possibility of surgical treatmentF Lalatta, D Clerici Bagozzi, M G Salmoiraghi, et al.American Journal of Medical Genetics|May 1, 1983
The campomelic syndrome: review, report of 17 cases, and follow-up on the currently 17-year-old boy first reported by Maroteaux et al in 1971C S Houston, J M Opitz, J W Spranger, et al.European Journal of Human Genetics : EJHG|January 17, 2003
PTPN11 mutations are not responsible for the Cardiofaciocutaneous (CFC) syndromeM I Kavamura, M G Pomponi, M Zollino, et al.American Journal of Medical Genetics|April 1, 1984
Syndrome of multiple pterygia, camptodactyly, facial anomalies, hypoplastic lungs and heart, cystic hygroma, and skeletal anomalies: delineation of a new entity and review of lethal forms of multiple pterygium syndromeH Chen, L Immken, R Lachman, et al.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.Pageof 18