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

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

Cite this

Segarra, N. G., Ballhausen, D., Crawford, H., Perreau, M., Campos-Xavier, B., van Spaendonck-Zwarts, K., Vermeer, C., Russo, M., Zambelli, P-Y., Stevenson, B., Royer-Bertrand, B., Rivolta, C., Candotti, F., Unger, S., Munier, F. L., Superti-Furga, A., & Bonafe, L. (2015). NBAS Mutations Cause a Multisystem Disorder Involving Bone, Connective Tissue, Liver, Immune System, and Retina. American Journal of Medical Genetics Part A, 167(12), 2902-2912. https://doi.org/10.1002/ajmg.a.37338