Jostein Westvik

Assignment of an autosomal sex reversa– locus (SRA1) and campomelic dysplasia (CMPD1) to 17q24.3–q25.1

Niels Tommerup, W. Schempp, Peter Meinecke et al. · Nature Genetics · 1993 · 193 citations

Developmental Biology, Mendelian Disorder, Cytogenetics +8

PGM3 Mutations Cause a Congenital Disorder of Glycosylation with Severe Immunodeficiency and Skeletal Dysplasia

Asbjørg Stray‐Pedersen, Paul Hoff Backe, Hanne Sørmo Sorte et al. · The American Journal of Human Genetics · 2014 · 176 citations · Full text

Mendelian Disorder, Autoimmune Disease, Pgm3 Mutations Cause +13

A novel type of rhizomelic chondrodysplasia punctata, RCDP5, is caused by loss of the PEX5 long isoform

Tuva Barøy, Janet Koster, Petter Strømme et al. · Human Molecular Genetics · 2015 · 79 citations · Full text

Radiological features in generalized lipodystrophy

Jostein Westvik · Acta Paediatrica · 1996 · 63 citations

Fatty Infiltration, Medical Imaging, Endocrine Disease +13

Axial Spondylometaphyseal Dysplasia Is Caused by C21orf2 Mutations

Zheng Wang, Aritoshi Iida, Noriko Miyake et al. · PLoS ONE · 2016 · 48 citations · Full text