Links
[1] https://ghr.nlm.nih.gov/search?query=atd
[2] https://ghr.nlm.nih.gov/condition/asphyxiating-thoracic-dystrophy#genes
[3] https://disorders.eyes.arizona.edu/disorders/majewski-syndrome
[4] http://omim.org/entry/263520
[5] https://disorders.eyes.arizona.edu/references/clinical-variability-asphyxiating-thoracic-dystrophy-jeune-syndrome-evaluation-and
[6] https://disorders.eyes.arizona.edu/references/visual-loss-presenting-sign-jeune-syndrome
[7] https://disorders.eyes.arizona.edu/references/jeune-syndrome-and-liver-disease-report-three-cases-treated-ursodeoxycholic-acid