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

TitleMutations in PCYT1A, encoding a key regulator of phosphatidylcholine metabolism, cause spondylometaphyseal dysplasia with cone-rod dystrophy.
Publication TypeJournal Article
Year of Publication2014
AuthorsHoover-Fong, J, Sobreira, N, Jurgens, J, Modaff, P, Blout, C, Moser, A, Kim, O-H, Cho, T-J, Cho, SYoon, Kim, SJin, Jin, D-K, Kitoh, H, Park, W-Y, Ling, H, Hetrick, KN, Doheny, KF, Valle, D, Pauli, RM
JournalAm J Hum Genet
Volume94
Issue1
Pagination105-12
Date Published2014 Jan 02
ISSN1537-6605
KeywordsAlleles, Child, Preschool, Choline-Phosphate Cytidylyltransferase, Female, Humans, Infant, Male, Middle Aged, Mutation, Missense, Osteochondrodysplasias, Pedigree, Phosphatidylcholines, Retinitis Pigmentosa
DOI10.1016/j.ajhg.2013.11.018
Alternate JournalAm. J. Hum. Genet.
PubMed ID24387990
PubMed Central IDPMC3882727
Grant ListU54 HG006493 / HG / NHGRI NIH HHS / United States
T32 GM007814 / GM / NIGMS NIH HHS / United States
U54 HG006542 / HG / NHGRI NIH HHS / United States
UL1 TR001079 / TR / NCATS NIH HHS / United States
T32 GM007471 / GM / NIGMS NIH HHS / United States