Assignment of the mulibrey nanism gene to 17q by linkage and linkage-disequilibrium analysis.
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ABSTRACT:
SUBMITTER: Avela K
PROVIDER: S-EPMC1712467 | biostudies-other | 1997 Apr
REPOSITORIES: biostudies-other
Publications
Assignment of the mulibrey nanism gene to 17q by linkage and linkage-disequilibrium analysis.
Avela K K Lipsanen-Nyman M M Perheentupa J J Wallgren-Pettersson C C Marchand S S Fauré S S Sistonen P P de la Chapelle A A Lehesjoki A E AE
American journal of human genetics 19970401 4
Mulibrey nanism (MUL) is an autosomal recessive disorder with unknown basic metabolic defect. It is characterized by growth failure of prenatal onset, characteristic dysmorphic features, constrictive pericardium, hepatomegaly as a consequence of constrictive pericardium, yellowish dots in the ocular fundi, and J-shaped sella turcica. Hypoplasia of various endocrine glands, causing hormone deficiencies, is common. Here we report the assignment of the MUL gene, by linkage analysis in Finnish famil ...[more]
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