A novel mutation in DDR2 causing spondylo-meta-epiphyseal dysplasia with short limbs and abnormal calcifications (SMED-SL) results in defective intra-cellular trafficking

BACKGROUND: The rare autosomal genetic disorder, Spondylo-meta-epiphyseal dysplasia with short limbs and abnormal calcifications (SMED-SL), is reported to be caused by missense or splice site mutations in the human discoidin domain receptor 2 (DDR2) gene. Previously our group has established that tr...

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Hlavní autoři: Al-Kindi, Adila, Kizhakkedath, Praseetha, Xu, Huifang, John, Anne, Sayegh, Abeer Al, Ganesh, Anuradha, Al-Awadi, Maha, Al-Anbouri, Lamya, Al-Gazali, Lihadh, Leitinger, Birgit, Ali, Bassam R
Médium: Artigo
Jazyk:Inglês
Vydáno: BioMed Central 2014
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Research Article
On-line přístup:https://ncbi.nlm.nih.gov/pmc/articles/PMC4001364/
https://ncbi.nlm.nih.gov/pubmed/24725993
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/1471-2350-15-42
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