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

AuthorsStefano Nobile, Elisa Pisaneschi, Antonio Novelli, Virgilio P Carnielli
JournalClinical dysmorphology (Clin Dysmorphol) Vol. 28 Issue 2 Pg. 74-77 (Apr 2019) ISSN: 1473-5717 [Electronic] England
PMID30480585 (Publication Type: Case Reports, Journal Article)
Chemical References
  • Receptors, Retinoic Acid
  • retinoic acid receptor beta
Topics
  • Anophthalmos (genetics)
  • Humans
  • Infant, Newborn
  • Lung Diseases (genetics)
  • Male
  • Microphthalmos (genetics)
  • Mutation
  • Receptors, Retinoic Acid (genetics, physiology)

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