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. 1999 Aug;65(2):427-32.
doi: 10.1086/302500.

A gene for lymphedema-distichiasis maps to 16q24.3

J Mangion  1 , N Rahman, S Mansour, G Brice, J Rosbotham, A H Child, V A Murday, P S Mortimer, R Barfoot, A Sigurdsson, S Edkins, M Sarfarazi, K Burnand, A L Evans, T O Nunan, M R Stratton, S Jeffery
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A gene for lymphedema-distichiasis maps to 16q24.3

J Mangion et al. Am J Hum Genet. 1999 Aug.

Abstract

Lymphedema-distichiasis (LD) is a dominantly inherited syndrome with onset of lymphedema at or just after puberty. Most affected individuals have distichiasis-fine hairs arising inappropriately from the eyelid meibomian glands-which is evident from birth. A study of three families with LD has shown linkage to chromosome 16q24.3, and subsequent analysis of the region for recombinant genes places the locus between D16S422 and D16S3074, a distance of approximately 16 cM. Possible candidate genes in this interval include the N-proteinase for type 3 collagen, PCOLN3; the metalloprotease PRSM1; and the cell matrix-adhesion regulator, CMAR.

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