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Autosomal dominant transmission of the NAME syndrome (nevi, atrial myxoma, mucinosis of the skin and endocrine overactivity).

作者信息

Koopman R J, Happle R

机构信息

Department of Dermatology, University of Nijmegen, The Netherlands.

出版信息

Hum Genet. 1991 Jan;86(3):300-4. doi: 10.1007/BF00202415.

Abstract

A family affected in two generations with the NAME syndrome is described, and the literature on this phenotype reviewed. The term "NAME" was originally proposed as an acronym for "nevi, atrial myxoma, myxoid neurofibromata and ephelides". However, in order to give a more comprehensive description of this syndrome, we recommend the following alternative interpretation of "NAME": nevi, atrial myxoma, mucinosis of the skin, endocrine overactivity. Previous family observations suggested a dominant, and probably autosomal, inheritance but an X-linked dominant transmission could not be excluded. We describe male-to-male transmission, strongly supporting the concept of the autosomal inheritance of this trait.

摘要

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