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 journalArticlepeer-review

33 Scopus citations
Original languageEnglish (US)
Pages (from-to)105-112
Number of pages8
JournalAmerican journal of human genetics
Issue number1
StatePublished - Jan 2 2014

ASJC Scopus subject areas

  • Genetics
  • Genetics(clinical)

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