Associated Papers
A homozygous ROR2 variant in a family with atypical Robinow syndrome and tetramelic transverse deficiency of autopods.
Malik S et al.
American Journal of Medical Genetics. Part A, 2022
Disorders of FZ-CRD; insights towards FZ-CRD folding and therapeutic landscape.
Milhem RM et al.
Molecular Medicine (cambridge, Mass.), 2019
Clinical and molecular characterization of seven Egyptian families with autosomal recessive robinow syndrome: Identification of four novel ROR2 gene mutations.
Aglan M et al.
American Journal of Medical Genetics. Part A, 2015
Identification of novel ROR2 gene mutations in Indian children with Robinow syndrome.
Tamhankar PM et al.
Journal of Clinical Research in Pediatric Endocrinology, 2014
Dominant versus recessive traits conveyed by allelic mutations - to what extent is nonsense-mediated decay involved?
Ben-Shachar S et al.
Clinical Genetics, 2009
Novel Robinow syndrome causing mutations in the proximal region of the frizzled-like domain of ROR2 are retained in the endoplasmic reticulum.
Ali BR et al.
Human Genetics, 2007
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