Report of a Novel Homozygous Nonsense DDR2 Mutation in an Indian Adult Male with Spondylo-meta-epiphyseal Dysplasia, Short Limb-Abnormal Calcification Type.
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ABSTRACT:
SUBMITTER: Gupta N
PROVIDER: S-EPMC6688880 | biostudies-literature | 2019 Sep
REPOSITORIES: biostudies-literature
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Report of a Novel Homozygous Nonsense <i>DDR2</i> Mutation in an Indian Adult Male with Spondylo-meta-epiphyseal Dysplasia, Short Limb-Abnormal Calcification Type.
Gupta Neerja N Correa Alec Reginald Errol ARE Jana Manisha M Kabra Madhulika M
Journal of pediatric genetics 20190312 3
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 <i>DDR2</i> . This is the first report of the disease from India. ...[more]
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