Maryann Weis

University Hospital of (1999)

Email Alerting, Geert R Mortier, Maryann Weis, Lieve Nuytinck, Lily M King, Douglas J Wilkin, ...

Report of five novel and one recurrent COL2A1 mutations with analysis of genotype-phenotype correlation in patients with a lethal type II collagen disorder

Spondylocheiro Dysplastic Form of the Ehlers-Danlos Syndrome—An Autosomal-Recessive Entity Caused by Mutations in the Zinc Transporter Gene SLC39A13

Giunta, Cecilia, Elçioglu, Nursel H., Albrecht, Beate, Eich, Georg, Chambaz, Céline, Janecke, Andreas R., ...

We present clinical, radiological, biochemical, and genetic findings on six patients from two consanguineous families that show EDS-like features and radiological findings of a mild skeletal...