Mutations in PCYT1A, Encoding a Key Regulator of Phosphatidylcholine Metabolism, Cause Spondylometaphyseal Dysplasia with Cone-Rod Dystrophy
- 1 January 2014
- journal article
- case report
- Published by Elsevier BV in American Journal of Human Genetics
- Vol. 94 (1), 105-112
- https://doi.org/10.1016/j.ajhg.2013.11.018
Abstract
No abstract availableThis publication has 48 references indexed in Scilit:
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