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Conference Paper: De novo C-terminal truncating mutations in MN1 cause a neurodevelopmental syndrome with distinctive facial features

TitleDe novo C-terminal truncating mutations in MN1 cause a neurodevelopmental syndrome with distinctive facial features
Authors
Gordon, CTLeung, KCMak, CCYDoherty, DLin, AVegas, NCho, MDimartino, CWeisfeld-Adams, JLessel, DJoss, SLi, CGonzaga-Jauregui, CZarate, YTroyer, CKant, SLeung, GBarone, AYang, SBend, ERoadhouse, CZahir, FStolerman, EBienvenu, TOrenstein, NDobyns, WShieh, JWaggoner, DGripp, KParker, MStoler, JLyonnet, SCormiere-Daire, VViskochil, DHoffman, TAmiel, JChung, BHY
Issue Date2019
Citation
The European Human Genetics Conference 2019, Gothenburg, Sweden, 15-18 June 2019 How to Cite?
DescriptionC05 Developmental disorders 1 - no. C05.5
Persistent Identifierhttp://hdl.handle.net/10722/269512

 

DC FieldValueLanguage
dc.contributor.authorGordon, CT-
dc.contributor.authorLeung, KC-
dc.contributor.authorMak, CCY-
dc.contributor.authorDoherty, D-
dc.contributor.authorLin, A-
dc.contributor.authorVegas, N-
dc.contributor.authorCho, M-
dc.contributor.authorDimartino, C-
dc.contributor.authorWeisfeld-Adams, J-
dc.contributor.authorLessel, D-
dc.contributor.authorJoss, S-
dc.contributor.authorLi, C-
dc.contributor.authorGonzaga-Jauregui, C-
dc.contributor.authorZarate, Y-
dc.contributor.authorTroyer, C-
dc.contributor.authorKant, S-
dc.contributor.authorLeung, G-
dc.contributor.authorBarone, A-
dc.contributor.authorYang, S-
dc.contributor.authorBend, E-
dc.contributor.authorRoadhouse, C-
dc.contributor.authorZahir, F-
dc.contributor.authorStolerman, E-
dc.contributor.authorBienvenu, T-
dc.contributor.authorOrenstein, N-
dc.contributor.authorDobyns, W-
dc.contributor.authorShieh, J-
dc.contributor.authorWaggoner, D-
dc.contributor.authorGripp, K-
dc.contributor.authorParker, M-
dc.contributor.authorStoler, J-
dc.contributor.authorLyonnet, S-
dc.contributor.authorCormiere-Daire, V-
dc.contributor.authorViskochil, D-
dc.contributor.authorHoffman, T-
dc.contributor.authorAmiel, J-
dc.contributor.authorChung, BHY-
dc.date.accessioned2019-04-24T08:09:13Z-
dc.date.available2019-04-24T08:09:13Z-
dc.date.issued2019-
dc.identifier.citationThe European Human Genetics Conference 2019, Gothenburg, Sweden, 15-18 June 2019-
dc.identifier.urihttp://hdl.handle.net/10722/269512-
dc.descriptionC05 Developmental disorders 1 - no. C05.5-
dc.languageeng-
dc.relation.ispartofEuropean Human Genetics Conference, 2019-
dc.titleDe novo C-terminal truncating mutations in MN1 cause a neurodevelopmental syndrome with distinctive facial features-
dc.typeConference_Paper-
dc.identifier.emailMak, CCY: ccymak@connect.hku.hk-
dc.identifier.emailChung, BHY: bhychung@hku.hk-
dc.identifier.authorityChung, BHY=rp00473-
dc.identifier.hkuros297495-

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