Cervical stenosis secondary to rhizomelic chondrodysplasia punctata

Human PEX7 encodes the peroxisomal PTS2 receptor and is responsible for rhizomelic chondrodysplasia punctata

1997 • 432 citations

Mutations in the gene encoding 3β- hydroxysteroid-Δ8,Δ7- isomerase cause X-linked dominant Conradi-Hünermann syndrome

1999 • 278 citations

Phenotype of patients with peroxisomal disorders subdivided into sixteen complementation groups

1995 • 246 citations

Mutations in a Δ8-Δ7 sterol isomerase in the tattered mouse and X-linked dominant chondrodysplasia punctata

1999 • 240 citations

Peroxisomal Disorders

1993 • 62 citations

Rhizomelic chondrodysplasia punctata and survival beyond one year: a review of the literature and five case reports

1990 • 58 citations

Studies of Vertebral Coronal Cleft in Rhizomelic Chondrodysplasia Punctata

1992 • 26 citations

Cervical spine abnormalities and instability with myelopathy in warfarin-related chondrodysplasia: 17-year follow-up

1998 • 21 citations

Cervicothoracic myelopathy in conradi-hunermann disease: MRI diagnosis

1990 • 21 citations

Clinical and biochemical characteristics of peroxisomal disorders: an update

1994 • 11 citations