Bi-allelic Variants in TONSL Cause SPONASTRIME Dysplasia and a Spectrum of Skeletal Dysplasia Phenotypes Journal Articles Refereed uri icon

Overview

Authors

  • Authorship

    • BURRAGE LC
    • SEAVITT JR
    • JAIN M
    • LI X
    • PARRY DA
    • RAMAN V
    • CHITAYAT D
    • CHINN IK
    • BERTUCH AA
    • KARAVITI L
    • SCHLESINGER AE
    • REYNOLDS JJ
    • EARL D
    • BAMSHAD M
    • PROF Ravi Savarirayan
    • DODDAPANENI H
    • MUZNY D
    • JHANGIANI SN
    • ENG CM
    • GIBBS RA
    • BI W
    • EMRICK L
    • BARATANG NV
    • ROSENFELD JA
    • POSTLETHWAIT J
    • WESTERFIELD M
    • DICKINSON ME
    • BEAUDET AL
    • RANZA E
    • HUBER C
    • CORMIER-DAIRE V
    • SHEN W
    • MAO R
    • PHILLIPS JB
    • HEANEY JD
    • ORANGE IJS
    • BERTOLA D
    • YAMAMOTO GL
    • BARATELA WA
    • BUTLER MG
    • ALI A
    • ADELI M
    • COHN DH
    • KRAKOW D
    • WEGNER J
    • JACKSON AP
    • LEES M
    • OFFIAH AC
    • CARLSTON CM
    • CAREY JC
    • STEWART GS
    • BACINO CA
    • CAMPEAU PM
    • LEE B
    • MCFARQUHAR A
    • HIGGS MR
    • CHRISTIANSEN AE
    • LANZA DG

Published in

  • American Journal of Human Genetics

Time

Date/time value

  • 2019

Identity

Digital Object Identifier (DOI)

  • 10.1016/j.ajhg.2019.01.007

Additional Document Info

Parent Title

  • AMERICAN JOURNAL OF HUMAN GENETICS

Volume

  • 104

Issue

  • 3

Publisher

  • University of Chicago Press