Holoprosencephaly and holoprosencephaly-like phenotypes: Review of facial and molecular findings in patients from a craniofacial hospital in Brazil

Molecular screening of SHH, ZIC2, SIX3,

Molecular screening of SHH, ZIC2, SIX3, and TGIF genes in patients with features of holoprosencephaly spectrum: Mutation review and genotype–phenotype correlations

✍ Christèle Dubourg; Leïla Lazaro; Laurent Pasquier; Claude Bendavid; Martine Blay 📂 Article 📅 2004 🏛 John Wiley and Sons 🌐 English ⚖ 225 KB 👁 1 views

## Communicated by Mireille Caustres Holoprosencephaly (HPE; 1 out of 16,000 live births; 1 out of 250 conceptuses) is a complex brain malformation resulting from incomplete cleavage of the prosencephalon, affecting both the forebrain and the face. Clinical expressivity is variable, ranging from a