Journalartikel

Jahr der Veröffentlichung: 1998

Seiten: 201-206

Zeitschrift: European Journal of Human Genetics

Bandnummer: 6

Heftnummer: 3

ISSN: 1018-4813

Open Access Status: Bronze

DOI Link: https://doi.org/10.1038/sj.ejhg.5200180

Verlag: Springer Nature [academic journals on nature.com]

Abstract: 
A previously unrecognised X-chromosomal mental retardation syndrome is described, Clinical hallmarks are mental retardation, epileptic seizures, hypogonadism, and -genitalism, microcephaly and obesity. Life expectancy of patients is less than two years. Based on the major clinical symptoms this condition is referred to by the acronym MEHMO. Haplotype and two-point linkage analyses in a large three-generation family assign the disease locus to Xp21.1-p22.13, to a region that is flanked by CYBB and DXS365.

Harvard-Zitierstil: Steinmüller, R., Steinberger, D. and Müller, U. (1998) MEHMO (mental retardation, epileptic seizures, hypogonadism and -genitalism, microcephaly, obesity), a novel syndrome:: assignment of disease locus to Xp21.1-p22.13, European Journal of Human Genetics, 6(3), pp. 201-206. https://doi.org/10.1038/sj.ejhg.5200180

APA-Zitierstil: Steinmüller, R., Steinberger, D., & Müller, U. (1998). MEHMO (mental retardation, epileptic seizures, hypogonadism and -genitalism, microcephaly, obesity), a novel syndrome:: assignment of disease locus to Xp21.1-p22.13. European Journal of Human Genetics. 6(3), 201-206. https://doi.org/10.1038/sj.ejhg.5200180