Concepedia

Heterozygous mutations in SIX3 and SHH are associated with schizencephaly and further expand the clinical spectrum of holoprosencephaly

Ute Hehr, Daniel Pineda‐Alvarez, Goekhan Uyanik, Ping Hu, Nan Zhou, Andreas Hehr, Chayim Schell-Apacik, Carola Altus, Cornelia Daumer‐Haas, A Meiner,

Human Genetics · 2010 · 62 citations · 25 references

DOI

Concepts

References

25

Mutations in the human Sonic Hedgehog gene cause holoprosencephaly

Erich Roessler, Elena Belloni, Karin Gaudenz et al. · Nature Genetics · 1996 · 1.2K citations

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Germline mutations in the homeobox gene EMX2 in patients with severe schizencephaly

Silvia Brunelli, A. Faiella, Valeria Capra et al. · Nature Genetics · 1996 · 305 citations

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Direct interaction of geminin and Six3 in eye development

Filippo Del Bene, Kristin Tessmar‐Raible, Joachim Wittbrodt · Nature · 2004 · 253 citations

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Haploinsufficiency of Six3 Fails to Activate Sonic hedgehog Expression in the Ventral Forebrain and Causes Holoprosencephaly

Xin Geng, Christina K. Speirs, Oleg V. Lagutin et al. · Developmental Cell · 2008 · 186 citations · Full text

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Middle interhemispheric fusion: an unusual variant of holoprosencephaly.

A. James Barkovich, Douglas J. Quint · PubMed · 1993 · 160 citations · Full text

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