A three-generation family with metaphyseal dysplasia,...

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European Journal of Human Genetics 2018 / 6

A three-generation family with metaphyseal dysplasia, maxillary hypoplasia and brachydactyly (MDMHB) due to intragenic RUNX2 duplication

Al-Yassin, Amina, Calder, Alistair D., Harrison, Mike, Lester, Tracy, Lord, Helen, Oldridge, Michael, Watkins, Sophie, Keen, Richard, Wakeling, Emma L.
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Language:
english
Journal:
European Journal of Human Genetics
DOI:
10.1038/s41431-018-0166-7
Date:
June, 2018
File:
PDF, 4.75 MB
english, 2018
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