Ehlers-Danlos syndrome type VI with cystic malformations of the meninges in a 7-year-old girl

A compound heterozygote patient with Ehl

A compound heterozygote patient with Ehlers-Danlos syndrome type VI has a deletion in one allele and a splicing defect in the other allele of the lysyl hydroxylase gene

✍ Birgitta Pousi; Timo Hautala; James C. Hyland; Jukka Schröter; Beate Eckes; Kari 📂 Article 📅 1998 🏛 John Wiley and Sons 🌐 English ⚖ 229 KB 👁 1 views

We report the first deletion mutation and the first splicing defect in the lysyl hydroxylase gene in a compound heterozygote patient with Ehlers-Danlos syndrome type VI with markedly reduced lysyl hydroxylase activity. Northern analysis of the RNA isolated from skin fibroblasts of the patient demons