Exome sequencing reveals a nonsense mutation in MMP13 as a new cause of autosomal recessive metaphyseal anadysplasia

Exome sequencing reveals a nonsense mutation in MMP13 as a new cause of autosomal recessive metaphyseal anadysplasia

Metaphyseal anadysplasia (MANDP) is an uncommon chondrodysplasia characterized by early-onset metaphyseal dysplasia and short stature that improves with age. MANDP is caused by mutations in the matrix metalloproteinase (MMP) 9 and 13 genes. Autosomal dominant (AD) MANDP has been described as more se...

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Xehetasun bibliografikoak
Egile Nagusiak: Li, Dong, Weber, David R, Deardorff, Matthew A, Hakonarson, Hakon, Levine, Michael A
Formatua: Text
Hizkuntza:ingelesa
Argitaratua: Nature Publishing Group 2015
Gaiak:
Short Report
Sarrera elektronikoa:https://pmc.ncbi.nlm.nih.gov/articles/PMC4297904/
https://pubmed.ncbi.nlm.nih.gov/24781753
http://dx.doi.org/10.1038/ejhg.2014.76
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Internet

https://pmc.ncbi.nlm.nih.gov/articles/PMC4297904/
https://pubmed.ncbi.nlm.nih.gov/24781753
http://dx.doi.org/10.1038/ejhg.2014.76

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