Prenatal exclusion of Ehlers-Danlos syndrome type VI by mutational analysis.

doi:10.1046/j.1525-1381.1999.09112.x

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Article

Prenatal exclusion of Ehlers-Danlos syndrome type VI by mutational analysis.

Proceedings of the Association of American Physicians - 1 Jan 2000

Yeowell H N, Walker L C

Abstract excerpt

We have performed the first prenatal assessment of clinical phenotype in a family affected by Ehlers-Danlos syndrome type VI (EDS VI), an inherited collagen disorder, by screening the fetal DNA for mutations in the lysyl hydroxylase (LH) gene. We have previously reported that the affected child i...

Topics

Alleles
Cells, Cultured
Chorionic Villi Sampling
DNA
Ehlers-Danlos Syndrome
Female
Humans
Mutation
Pedigree
Polymerase Chain Reaction
Pregnancy
Procollagen-Lysine, 2-Oxoglutarate 5-Dioxygenase

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