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ALPK1 missense pathogenic variant in five families leads to ROSAH syndrome, an ocular multisystem autosomal dominant disorder

  • Lloyd B Williams
  • , Asif Javed
  • , Amin Sabri
  • , Denise J Morgan
  • , Chad D Huff
  • , John R Grigg
  • , Xiu Ting Heng
  • , Alexis J Khng
  • , Iris H I M Hollink
  • , Margaux A Morrison
  • , Leah A Owen
  • , Katherine Anderson
  • , Krista Kinard
  • , Rebecca Greenlees
  • , Danica Novacic
  • , H Nida Sen
  • , Wadih M Zein
  • , George M Rodgers
  • , Albert T Vitale
  • , Neena B Haider
    • Axel M Hillmer, Pauline C Ng, Shankaracharya, Anson Cheng, Linda Zheng, Mark C Gillies, Marjon van Slegtenhorst, P Martin van Hagen, Tom O A R Missotten, Gary L Farley, Michael Polo, James Malatack, Julie Curtin, Frank Martin, Susan Arbuckle, Stephen I Alexander, Megan Chircop, Sonia Davila, Kathleen B Digre, Robyn V Jamieson, Margaret M DeAngelis

Research output: Contribution to journal › Article › Research › peer-review

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Medicine and Dentistry

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Biochemistry, Genetics and Molecular Biology