A rare mutation of retinoic acid receptor-β associated with lethal neonatal Matthew-Wood syndrome

Clin Dysmorphol. 2019 Apr;28(2):74-77. doi: 10.1097/MCD.0000000000000251.
No abstract available

Publication types

  • Case Reports

MeSH terms

  • Anophthalmos / genetics*
  • Humans
  • Infant, Newborn
  • Lung Diseases / genetics*
  • Male
  • Microphthalmos / genetics*
  • Mutation
  • Receptors, Retinoic Acid / genetics*
  • Receptors, Retinoic Acid / physiology

Substances

  • Receptors, Retinoic Acid
  • retinoic acid receptor beta

Supplementary concepts

  • Anophthalmia with pulmonary hypoplasia