Mutations in PCYT1A, encoding a key regulator of phosphatidylcholine metabolism, cause spondylometaphyseal dysplasia with cone-rod dystrophy

Julie Hoover-Fong, Nara Sobreira, Julie Jurgens, Peggy Modaff, Carrie Blout, Ann Moser, Ok Hwa Kim, Tae Joon Cho, Sung Yoon Cho, Sang Jin Kim, Dong Kyu Jin, Hiroshi Kitoh, Woong Yang Park, Hua Ling, Kurt N. Hetrick, Kimberly F. Doheny, David Valle, Richard M. Pauli

Research output: Contribution to journal › Article › peer-review

33 Scopus citations

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