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Clinical utility gene card for: Holoprosencephaly.

Abstract : Name of the Disease (Synonyms): Holoprosencephaly (HPE) A mild subtype of HPE is called Middle InterhemisphericVariant (MIHF) or syntelencephaly. OMIM# of the Disease: 236100 Analysed Genes or DNA/Chromosome Segments: SHH, 7q36 (HPE3); ZIC2, 13q32 (HPE5); SIX3, 2p21 (HPE2); TGIF, 18p11.3 (HPE4), GLI2, 2q14 (HPE9); PATCHED-1, 9q22 (HPE7); DISP1, 1q42; FOXH1, 8q24.3; NODAL, 10q22.1 and others OMIM# of the Gene(s): SHH #600725; ZIC2 #603073; SIX3 #603714; TGIF #602630 GLI2 #165230; PATCHED-1 #601309; DISP1 #607502; FOXH1 #603621; NODAL #601265 Review of the analytical and clinical validity as well as of the clinical utility of DNA-based testing for mutations in the SHH, HPE3, ZIC2, HPE5, SIX3, HPE2, TGIF, HPE4, GLI2, HPE9, PATCHED-1, HPE7, DISP1, 1q42; FOXH1, 8q24.3, NODAL, 10q22.1 and other genes in diagnostic and prenatal settings and for risk assessment in relatives.
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Contributor : Hervé De Villemeur Connect in order to contact the contributor
Submitted on : Friday, January 21, 2011 - 4:35:17 PM
Last modification on : Wednesday, March 30, 2022 - 2:34:59 PM
Long-term archiving on: : Friday, April 22, 2011 - 2:26:13 AM


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Christèle Dubourg, Véronique David, Andrea Gropman, Sandra Mercier, Maximilian Muenke, et al.. Clinical utility gene card for: Holoprosencephaly.. European Journal of Human Genetics, Nature Publishing Group, 2011, 19 (1), preceeding 118-20. ⟨10.1038/ejhg.2010.110⟩. ⟨inserm-00511701⟩



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