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J Pediatr Genet 2019; 08(03): 153-156
DOI: 10.1055/s-0039-1683382
DOI: 10.1055/s-0039-1683382
Case Report
Report of a Novel Homozygous Nonsense DDR2 Mutation in an Indian Adult Male with Spondylo-meta-epiphyseal Dysplasia, Short Limb-Abnormal Calcification Type
Weitere Informationen
Publikationsverlauf
07. Oktober 2018
30. Januar 2019
Publikationsdatum:
12. März 2019 (online)

Abstract
Spondylo-meta-epiphyseal dysplasia, short limb-abnormal calcification type is a rare autosomal recessive disorder causing severe disproportionate short stature along with typical radiological features. We report an adult male patient with typical features and a novel homozygous nonsense mutation c.2422C > T (p.Gln808Ter) in DDR2. This is the first report of the disease from India.
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References
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