Article
The unfolding clinical spectrum of holoprosencephaly due to mutations in SHH, ZIC2, SIX3 and TGIF genes.
European journal of human genetics : EJHG - 1 Sept 2010
Paulussen Aimée D C, 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, van Bever Yolande, Stolte-Dijkstra Irene, Kerstjens-Frederikse Wilhelmina S, Herkert Johanna C, van Essen Anthonie J, Lichtenbelt Klaske D, van Haeringen Arie, Kwee Mei L, Lachmeijer Augusta M A, Tan-Sindhunata Gita M B, van Maarle Merel C, Arens Yvonne H J M, Smeets Eric E J G L, de Die-Smulders Christine E, Engelen John J M, Smeets Hubertus J, Herbergs Jos
Abstract excerpt
Holoprosencephaly is a severe malformation of the brain characterized by abnormal formation and separation of the developing central nervous system. The prevalence is 1:250 during early embryogenesis, the live-born prevalence is 1:16 000. The etiology of HPE is extremely heterogeneous and can be teratogenic or genetic. We screened four known HPE genes in a Dutch cohort of 86 non-syndromic HPE index cases,...
Topics
- Eye Proteins
- Female
- Hedgehog Proteins
- Holoprosencephaly
- Homeodomain Proteins
- Humans
- Male