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The unfolding clinical spectrum of holoprosencephaly due to mutations in SHH, ZIC2, SIX3 and TGIF genes

✍ Scribed by Paulussen, Aimée DC; Schrander-Stumpel, Constance T; Tserpelis, Demis C J; Spee, Matteus K M; Stegmann, Alexander P A; Mancini, Grazia M; Brooks, Alice S; Collée, Margriet; Maat-Kievit, Anneke; Simon, Marleen E H


Book ID
109849418
Publisher
Nature Publishing Group
Year
2010
Tongue
English
Weight
463 KB
Volume
18
Category
Article
ISSN
1018-4813

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## 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