The unfolding clinical spectrum of holoprosencephaly due to mutations in SHH, ZIC2, SIX3 and TGIF ge...
The unfolding clinical spectrum of holoprosencephaly due to mutations in SHH, ZIC2, SIX3 and TGIF genes
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Author / Creator
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 , 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 and Herbergs, Jos
Publisher
Cham: Springer International Publishing
Journal title
Language
English
Formats
Publication information
Publisher
Cham: Springer International Publishing
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Scope and Contents
Contents
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 ge...
Alternative Titles
Full title
The unfolding clinical spectrum of holoprosencephaly due to mutations in SHH, ZIC2, SIX3 and TGIF genes
Authors, Artists and Contributors
Author / Creator
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
Identifiers
Primary Identifiers
Record Identifier
TN_cdi_pubmedcentral_primary_oai_pubmedcentral_nih_gov_2987413
Permalink
https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_pubmedcentral_primary_oai_pubmedcentral_nih_gov_2987413
Other Identifiers
ISSN
1018-4813
E-ISSN
1476-5438
DOI
10.1038/ejhg.2010.70
