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

Adila Al-Kindi, Praseetha Kizhakkedath, Huifang Xu, Anne John, Abeer A. Sayegh, Anuradha Ganesh, Maha Al-Awadi, Lamya Al-Anbouri, Lihadh Al-Gazali, Birgit Leitinger, Bassam R. Ali^*

^*المؤلف المقابل لهذا العمل