NBAS Mutations Cause a Multisystem Disorder Involving Bone, Connective Tissue, Liver, Immune System, and Retina

Nuria Garcia Segarra, Diana Ballhausen, Heather Crawford, Matthieu Perreau, Belinda Campos-Xavier, Karin van Spaendonck-Zwarts, Cees Vermeer, Michel Russo, Pierre-Yves Zambelli, Brian Stevenson, Beryl Royer-Bertrand, Carlo Rivolta, Fabio Candotti, Sheila Unger, Francis L. Munier, Andrea Superti-Furga, Luisa Bonafe*

*Corresponding author for this work

Research output: Contribution to journalArticleAcademicpeer-review

Original languageEnglish
Pages (from-to)2902-2912
JournalAmerican Journal of Medical Genetics Part A
Volume167
Issue number12
DOIs
Publication statusPublished - Dec 2015

Keywords

  • NBAS
  • liver disease
  • transaminase
  • fatty acid oxidation
  • skeletal dysplasia
  • retinal dystrophy
  • optic atrophy
  • immunodeficiency
  • Pelger-Huet anomaly
  • cervical instability

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