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Biallelic variants in POPDC2 cause a novel autosomal recessive syndrome presenting with cardiac conduction defects and variable hypertrophic cardiomyopathy

Authors :
Genetica Groep Van Tintelen
Cancer
Child Health
Circulatory Health
Nicastro, Michele
Vermeer, Alexa M C
Postema, Pieter G
Tadros, Rafik
Bowling, Forrest Z
Aegisdottir, Hildur M
Tragante, Vinicius
Mach, Lukas
Postma, Alex V
Lodder, Elisabeth M
van Duijvenboden, Karel
Zwart, Rob
Beekman, Leander
Wu, Lingshuang
van der Zwaag, Paul A
Alders, Mariëlle
Allouba, Mona
Aguib, Yasmine
Santomel, J Luis
de Una, David
Monserrat, Lorenzo
Miranda, Antonio M A
Kanemaru, Kazumasa
Cranley, James
van Zeggeren, Ingeborg E
Aronica, Eleonora M A
Ripolone, Michela
Zanotti, Simona
Sveinbjornsson, Gardar
Ivarsdottir, Erna V
Hólm, Hilma
Guðbjartsson, Daníel F
Skúladóttir, Ástrós Th
Stefánsson, Kári
Nadauld, Lincoln
Knowlton, Kirk U
Ostrowski, Sisse Rye
Sørensen, Erik
Vesterager Pedersen, Ole Birger
Ghouse, Jonas
Rand, Søren
Bundgaard, Henning
Ullum, Henrik
Erikstrup, Christian
Aagaard, Bitten
Bruun, Mie Topholm
Christiansen, Mette
Jensen, Henrik K
Carere, Deanna Alexis
Cummings, Christopher T
Fishler, Kristen
Tøring, Pernille Mathiesen
Brusgaard, Klaus
Juul, Trine Maxel
Saaby, Lotte
Winkel, Bo Gregers
Mogensen, Jens
Fortunato, Francesco
Comi, Giacomo Pietro
Ronchi, Dario
van Tintelen, J Peter
Noseda, Michela
Airola, Michael V
Christiaans, Imke
Wilde, Arthur A M
Wilders, Ronald
Clur, Sally-Ann
Verkerk, Arie O
Bezzina, Connie R
Lahrouchi, Najim
Genetica Groep Van Tintelen
Cancer
Child Health
Circulatory Health
Nicastro, Michele
Vermeer, Alexa M C
Postema, Pieter G
Tadros, Rafik
Bowling, Forrest Z
Aegisdottir, Hildur M
Tragante, Vinicius
Mach, Lukas
Postma, Alex V
Lodder, Elisabeth M
van Duijvenboden, Karel
Zwart, Rob
Beekman, Leander
Wu, Lingshuang
van der Zwaag, Paul A
Alders, Mariëlle
Allouba, Mona
Aguib, Yasmine
Santomel, J Luis
de Una, David
Monserrat, Lorenzo
Miranda, Antonio M A
Kanemaru, Kazumasa
Cranley, James
van Zeggeren, Ingeborg E
Aronica, Eleonora M A
Ripolone, Michela
Zanotti, Simona
Sveinbjornsson, Gardar
Ivarsdottir, Erna V
Hólm, Hilma
Guðbjartsson, Daníel F
Skúladóttir, Ástrós Th
Stefánsson, Kári
Nadauld, Lincoln
Knowlton, Kirk U
Ostrowski, Sisse Rye
Sørensen, Erik
Vesterager Pedersen, Ole Birger
Ghouse, Jonas
Rand, Søren
Bundgaard, Henning
Ullum, Henrik
Erikstrup, Christian
Aagaard, Bitten
Bruun, Mie Topholm
Christiansen, Mette
Jensen, Henrik K
Carere, Deanna Alexis
Cummings, Christopher T
Fishler, Kristen
Tøring, Pernille Mathiesen
Brusgaard, Klaus
Juul, Trine Maxel
Saaby, Lotte
Winkel, Bo Gregers
Mogensen, Jens
Fortunato, Francesco
Comi, Giacomo Pietro
Ronchi, Dario
van Tintelen, J Peter
Noseda, Michela
Airola, Michael V
Christiaans, Imke
Wilde, Arthur A M
Wilders, Ronald
Clur, Sally-Ann
Verkerk, Arie O
Bezzina, Connie R
Lahrouchi, Najim
Publication Year :
2024

Details

Database :
OAIster
Notes :
English
Publication Type :
Electronic Resource
Accession number :
edsoai.on1453479185
Document Type :
Electronic Resource