Associated Papers
Features of Congenital Arthrogryposis Due to Abnormalities in Collagen Homeostasis, a Scoping Review.
Picker SM et al.
International Journal of Molecular Sciences, 2023
Mild Phenotype of Arthrogryposis, Renal Dysfunction, and Cholestasis Syndrome 1 Caused by a Novel VPS33B Variant.
Linhares ND et al.
Frontiers in Genetics, 2022
Two novel mutations in VPS33B gene cause a milder ARC syndrome with prolonged survival in a 12-year-old patient: Case report.
Zhu Y et al.
Frontiers in Pediatrics, 2022
Genetics of Inherited Ichthyoses and Related Diseases.
Fischer J et al.
Acta Dermato-venereologica, 2020
[Syndromes with scales and keratosis].
Fischer J
Der Hautarzt; Zeitschrift Fur Dermatologie, Venerologie, Und Verwandte Gebiete, 2019
Novel VPS33B mutation in a patient with autosomal recessive keratoderma-ichthyosis-deafness syndrome.
Alter S et al.
American Journal of Medical Genetics. Part A, 2018
VPS33B and VIPAR are essential for epidermal lamellar body biogenesis and function.
Rogerson C et al.
Biochimica Et Biophysica Acta. Molecular Basis of Disease, 2018
Autosomal Recessive Keratoderma-Ichthyosis-Deafness (ARKID) Syndrome Is Caused by VPS33B Mutations Affecting Rab Protein Interaction and Collagen Modification.
Gruber R et al.
The Journal of Investigative Dermatology, 2017
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