Associated Papers
Spondylometaepiphyseal Dysplasia Short Limb-Abnormal Calcification Type in Turkish Patients Reveals a Novel Mutation and New Features.
Yilmaz Gulec E et al.
Molecular Syndromology, 2022
Personalized cancer therapy prioritization based on driver alteration co-occurrence patterns.
Mateo L et al.
Genome Medicine, 2020
32907621 (PubMed )
Supplement: 13073_2020_774_MOESM1_ESM.zip › SupplementaryTables › TableS2.xlsx › Driver_Mutations
Report of a Novel Homozygous Nonsense DDR2 Mutation in an Indian Adult Male with Spondylo-meta-epiphyseal Dysplasia, Short Limb-Abnormal Calcification Type.
Gupta N et al.
Journal of Pediatric Genetics, 2019
Further expansion of the mutational spectrum of spondylo-meta-epiphyseal dysplasia with abnormal calcification.
Ürel-Demir G et al.
Journal of Human Genetics, 2018
Novel DDR2 mutation identified by whole exome sequencing in a Moroccan patient with spondylo-meta-epiphyseal dysplasia, short limb-abnormal calcification type.
Mansouri M et al.
American Journal of Medical Genetics. Part A, 2016
A novel mutation in DDR2 causing spondylo-meta-epiphyseal dysplasia with short limbs and abnormal calcifications (SMED-SL) results in defective intra-cellular trafficking.
Al-Kindi A et al.
Bmc Medical Genetics, 2014
Collagen recognition and transmembrane signalling by discoidin domain receptors.
Carafoli F et al.
Biochimica Et Biophysica Acta, 2013
Trafficking defects and loss of ligand binding are the underlying causes of all reported DDR2 missense mutations found in SMED-SL patients.
Ali BR et al.
Human Molecular Genetics, 2010
Mutations in DDR2 gene cause SMED with short limbs and abnormal calcifications.
Bargal R et al.
American Journal of Human Genetics, 2009
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