Holoprosencephaly

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  Subject Areas on Research

  • BMP antagonism protects Nodal signaling in the gastrula to promote the tissue interactions underlying mammalian forebrain and craniofacial patterning. 
  • Chordin and noggin promote organizing centers of forebrain development in the mouse. 
  • Congenital nasal pyriform aperture stenosis in the monozygotic twin of a child with holoprosencephaly. 
  • Non-genetic risk factors for holoprosencephaly. 
  • OTX2 mutations contribute to the otocephaly-dysgnathia complex. 
  • Prenatal diagnosis of de novo isochromosome 13q associated with microcephaly, alobar holoprosencephaly and cebocephaly in a fetus. 
  • Prenatal diagnosis of partial monosomy 18p(18p11.2-->pter) and trisomy 21q(21q22.3-->qter) with alobar holoprosencephaly and premaxillary agenesis. 
  • Roles of bone morphogenetic protein signaling and its antagonism in holoprosencephaly.