Φορτώνει......
Identification of a novel homozygous mutation in the DDR2 gene from a patient with spondylo-meta-epiphyseal dysplasia by whole exome sequencing
OBJECTIVE(S): The spondylo-meta-epiphyseal dysplasia (SMED) short limbs-hand type is a rare autosomal recessive disease, which is characterized by premature calcification leading to severe disproportionate short stature and various skeletal changes. Defective function of a conserved region encoding...
Αποθηκεύτηκε σε:
| Τόπος έκδοσης: | Iran J Basic Med Sci |
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| Κύριοι συγγραφείς: | , , , , , , , , |
| Μορφή: | Artigo |
| Γλώσσα: | Inglês |
| Έκδοση: |
Mashhad University of Medical Sciences
2021
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| Θέματα: | |
| Διαθέσιμο Online: | https://ncbi.nlm.nih.gov/pmc/articles/PMC8061321/ https://ncbi.nlm.nih.gov/pubmed/33953858 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.22038/IJBMS.2020.44487.10405 |
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