Two novel missense mutations in HAIRY-AND-ENHANCER-OF-SPLIT-7 in a family with spondylocostal dysostosis.
Sparrow DB; Sillence D; Wouters MA; Turnpenny PD; Dunwoodie SL; European Journal Of Human Genetics: EJHG, 2010, vol. 18, issue 6, p 674, ISSN 14765438. ISBN 14765438.

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