Format

Send to

Choose Destination
Am J Hum Genet. 2014 Jan 2;94(1):105-12. doi: 10.1016/j.ajhg.2013.11.018.

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

Author information

1
McKusick-Nathans Institute of Genetic Medicine, Greenberg Center for Skeletal Dysplasias, Johns Hopkins University School of Medicine, Baltimore, MD 21287, USA; Department of Pediatrics, Johns Hopkins University School of Medicine, Baltimore, MD 21205, USA. Electronic address: jhoover2@jhmi.edu.
2
McKusick-Nathans Institute of Genetic Medicine, Johns Hopkins University School of Medicine, Baltimore, MD 21205, USA.
3
McKusick-Nathans Institute of Genetic Medicine, Johns Hopkins University School of Medicine, Baltimore, MD 21205, USA; Predoctoral Training Program in Human Genetics, Johns Hopkins University School of Medicine, Baltimore, MD 21205, USA.
4
Department of Pediatrics, University of Wisconsin-Madison, Madison, WI 53705, USA.
5
McKusick-Nathans Institute of Genetic Medicine, Greenberg Center for Skeletal Dysplasias, Johns Hopkins University School of Medicine, Baltimore, MD 21287, USA.
6
Department of Neurogenetics, Kennedy Krieger Institute, Baltimore, MD 21205, USA.
7
Department of Radiology, Ajou University Hospital, Suwon, Kyunggi 443-721, Korea.
8
Division of Pediatric Orthopaedics, Seoul National University Children's Hospital, Seoul 110-744, Korea.
9
Department of Pediatrics, Hanyang University Guri Hospital, Hanyang University College of Medicine, Guri, Gyeonggi-Do 471-701, Korea.
10
Department of Ophthalmology, Samsung Medical Center, Sungkyunkwan University School of Medicine, Seoul 135-710, Korea.
11
Department of Pediatrics, Samsung Medical Center, Sungkyunkwan University School of Medicine, Seoul 135-710, Korea.
12
Department of Orthopaedic Surgery, Nagoya University Graduate School of Medicine, Nagoya, Aichi 466-8550, Japan.
13
Samsung Genome Institute, Samsung Medical Center, Seoul 135-710, Korea; Department of Molecular Cell Biology, Sungkyunkwan University School of Medicine, Suwon 440-746, Korea.
14
Center for Inherited Disease Research, McKusick-Nathans Institute of Genetic Medicine, Johns Hopkins University School of Medicine, Baltimore, MD 21224, USA.
15
Department of Pediatrics, Johns Hopkins University School of Medicine, Baltimore, MD 21205, USA; McKusick-Nathans Institute of Genetic Medicine, Johns Hopkins University School of Medicine, Baltimore, MD 21205, USA.
PMID:
24387990
PMCID:
PMC3882727
DOI:
10.1016/j.ajhg.2013.11.018
[Indexed for MEDLINE]
Free PMC Article

Supplemental Content

Full text links

Icon for Elsevier Science Icon for PubMed Central
Loading ...
Support Center