Martsolf Syndrome
General: Autosomal recessive; rare; cardiac abnorma 929b13j lities.
Ocular: Cataracts.
Clinical: Mental retardation; short stature; hypogonadism.
Harbord MG, et al. Microcephaly, mental retardation, cataracts and hypogonadism in sibs: Martsolf's syndrome. J Med Genet 1989; 26:397-406.
Martsolf JT, et al. Severe mental retardation, cataracts, short stature, hypogonadism in two brothers. Am J Med Genet 1978; 1:291-299.
McKusick VA. Mendelian Inheritance in Man; A Catalog of Human Genes and Genetic Disorders, 12th ed. Baltimore: The Johns Hopkins University Press, 1998.
Online Mendelian Inheritance in Man, OMIM. McKusick-Nathans Institute for Genetic Medicine, Johns Hopkins University and National Center for Biotechnology Information, National Library of Medicine, February 12, 2007. World Wide Web URL: https://www.ncbi.nlm.nih.gov/omim/.
Sanchez JM, et al. Two brothers with Martsolf's syndrome. J Med Genet 1985; 22:308-310.
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