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Paper Details

Biallelic loss-of-function P4HTM gene variants cause hypotonia, hypoventilation, intellectual disability, dysautonomia, epilepsy, and eye abnormalities (HIDEA syndrome).
Genet Med
16
2019
Author NameAffiliation
Mitja I KurkiMassachusetts General Hospital
Mitja I KurkiInstitute for Molecular Medicine Finland (FIMM), University of Helsinki
Mitja I KurkiThe Stanley Center for Psychiatric Research, The Broad Institute of MIT and Harvard
Outi KuisminPEDEGO Research Unit and Medical Research Centre Oulu, University of Oulu and Oulu University Hospital
Outi KuisminInstitute for Molecular Medicine Finland (FIMM), University of Helsinki
Outi KuisminOulu University Hospital
Aarno PalotieMassachusetts General Hospital
Aarno PalotieMassachusetts General Hospital
Aarno PalotieMassachusetts General Hospital
Aarno PalotieInstitute for Molecular Medicine Finland (FIMM), University of Helsinki
Aarno PalotieThe Stanley Center for Psychiatric Research, The Broad Institute of MIT and Harvard
Yaping YangBaylor College of Medicine
Yaping Yang
Jukka S MoilanenPEDEGO Research Unit and Medical Research Centre Oulu, University of Oulu and Oulu University Hospital
Jukka S MoilanenOulu University Hospital
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