Missense Mutations of the Pro65 Residue of PCGF2 Cause a Recognizable Syndrome Associated with Craniofacial, Neurological, Cardiovascular, and Skeletal Features Journal Articles Refereed uri icon

Overview

Authors

  • Authorship

    • TURNPENNY PD
    • CARPENTER L
    • SCHAEFER GB
    • FRYER A
    • INNES AM
    • FORBES KP
    • CHUNG WK
    • MCLAUGHLIN H
    • HENDERSON LB
    • ROBERTS AE
    • HEATH KE
    • WRIGHT MJ
    • PAUMARD-HERNANDEZ B
    • GENER B
    • FAWCETT KA
    • GJERGJA-JURASKI R
    • PILZ DT
    • FRY AE
    • SLOMAN M
    • CASWELL R
    • VAN ESSEN AJ
    • GERKES E
    • PFUNDT R
    • A/PROF Susan White
    • SHAUL-LOTAN N

Published in

  • American Journal of Human Genetics

Time

Date/time value

  • 2018

Identity

Digital Object Identifier (DOI)

  • 10.1016/j.ajhg.2018.09.012

Additional Document Info

Parent Title

  • AMERICAN JOURNAL OF HUMAN GENETICS

Volume

  • 103

Issue

  • 5

Publisher

  • University of Chicago Press