Associated Papers
Spectrum of genetic alterations in patients with peroxisome biogenesis defects in the Iranian population: a case series study.
Khalilian S et al.
Bmc Medical Genomics, 2025
Antenatal ultrasonographic diagnosis of rhizomelic chondrodysplasia punctata.
Gerami R et al.
Journal of Ultrasound, 2023
The type-2 peroxisomal targeting signal.
Kunze M
Biochimica Et Biophysica Acta. Molecular Cell Research, 2020
Rhizomelic chondrodysplasia punctata and cardiac pathology.
Huffnagel IC et al.
Journal of Medical Genetics, 2013
C86Y: as a destructive homozygous mutation deteriorating Pex7p function causing rhizomelic chondrodysplasia punctata type I.
Salamian A et al.
Annals of Clinical and Laboratory Science, 2013
Mutational spectrum in the PEX7 gene and functional analysis of mutant alleles in 78 patients with rhizomelic chondrodysplasia punctata type 1.
Motley AM et al.
American Journal of Human Genetics, 2002
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