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Hydrolethalus syndrome is caused by a missense mutation in a novel gene HYLS1

13 Apr 2005

Abstract excerpt

Hydrolethalus syndrome (HLS) is an autosomal recessive lethal malformation syndrome characterized by multiple developmental defects of fetus. We have earlier mapped and restricted the HLS region to a critical 1 cM interval on 11q23-25. The linkage disequilibrium (LD) and haplotype analyses of single nucleotide polymorphism (SNP) markers helped to further restrict the HLS locus to 476 kb between genes PKNOX2 and...

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PMID: 15843405
DOI: 10.1093/hmg/ddi157

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