Assignment of the mulibrey nanism gene to 17q by linkage and linkage-disequilibrium analysis.

@article{Avela1997AssignmentOT,
  title={Assignment of the mulibrey nanism gene to 17q by linkage and linkage-disequilibrium analysis.},
  author={Kristiina Avela and Marita Lipsanen-Nyman and Jaakko Perheentupa and Carina Wallgren-Pettersson and Sylvie Marchand and Sabine Faur{\'e} and Pertti Sistonen and Albert de la Chapelle and A E Lehesjoki},
  journal={American journal of human genetics},
  year={1997},
  volume={60 4},
  pages={896-902}
}
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… CONTINUE READING

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