Phenotypes, developmental basis, and genetics of pierre robin complex

Susan M.Motch Perrine, Meng Wu, Greg Holmes, Bryan C. Bjork, Ethylin Wang Jabs, Joan Therese Richtsmeier

Research output: Contribution to journalReview articlepeer-review

2 Scopus citations

Abstract

The phenotype currently accepted as Pierre Robin syndrome/sequence/anomalad/complex (PR) is characterized by mandibular dysmorphology, glossoptosis, respiratory obstruction, and in some cases, cleft palate. A causative sequence of developmental events is hypothesized for PR, but few clear causal relationships between discovered genetic variants, dysregulated gene expression, precise cellular processes, pathogenesis, and PR-associated anomalies are documented. This review presents the current understanding of PR phenotypes, the proposed pathogenetic processes underlying them, select genes associated with PR, and available animal models that could be used to better understand the genetic basis and phenotypic variation of PR.

Original languageEnglish (US)
Article number30
Pages (from-to)1-21
Number of pages21
JournalJournal of Developmental Biology
Volume8
Issue number4
DOIs
StatePublished - 2020

All Science Journal Classification (ASJC) codes

  • Molecular Biology
  • Developmental Biology
  • Cell Biology

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