Article

Identification of two novel COL10A1 heterozygous mutations in two Chinese pedigrees with Schmid-type metaphyseal chondrodysplasia

2019-12-18

Abstract excerpt

<title>Abstract</title> <p>Background: Schmid-type metaphyseal chondrodysplasia (MCDS) is an autosomal dominant disorder caused by COL10A1 mutations, which is characterized by short stature, waddling gait, coxa vara and bowing of the long bones. However, descriptions of the expressivity of MCDS are rare. <h4>Methods:</h4> Two probands and available family members affected with MCDS were subjected to clinical and...

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Literature Corpus work: 95d3b502-8265-591b-ad7e-23489926c9e7
DOI: 10.21203/rs.2.11650/v5

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