Torthaí cuardaigh - Anwar, Najwa

Two novel bi‐allelic KDELR2 missense variants cause osteogenesis imperfecta with neurodevelopmental features de réir Efthymiou, Stephanie, Herman, Isabella, Rahman, Fatima, Anwar, Najwa, Maroofian, Reza, Yip, Janice, Mitani, Tadahiro, Calame, Daniel G., Hunter, Jill V., Sutton, V. Reid, Yilmaz Gulec, Elif, Duan, Ruizhi, Fatih, Jawid M., Marafi, Dana, Pehlivan, Davut, Jhangiani, Shalini N., Gibbs, Richard A., Posey, Jennifer E., Maqbool, Shazia, Lupski, James R., Houlden, Henry

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Bi-allelic premature truncating variants in LTBP1 cause cutis laxa syndrome de réir Pottie, Lore, Adamo, Christin S., Beyens, Aude, Lütke, Steffen, Tapaneeyaphan, Piyanoot, De Clercq, Adelbert, Salmon, Phil L., De Rycke, Riet, Gezdirici, Alper, Gulec, Elif Yilmaz, Khan, Naz, Urquhart, Jill E., Newman, William G., Metcalfe, Kay, Efthymiou, Stephanie, Maroofian, Reza, Anwar, Najwa, Maqbool, Shazia, Rahman, Fatima, Altweijri, Ikhlass, Alsaleh, Monerah, Abdullah, Sawsan Mohamed, Al-Owain, Mohammad, Hashem, Mais, Houlden, Henry, Alkuraya, Fowzan S., Sips, Patrick, Sengle, Gerhard, Callewaert, Bert

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Inhibition of G-protein signalling in cardiac dysfunction of intellectual developmental disorder with cardiac arrhythmia (IDDCA) syndrome de réir De Nittis, Pasquelena, Efthymiou, Stephanie, Sarre, Alexandre, Guex, Nicolas, Chrast, Jacqueline, Putoux, Audrey, Sultan, Tipu, Raza Alvi, Javeria, ur Rahman, Zia, Zafar, Faisal, Rana, Nuzhat, Rahman, Fatima, Anwar, Najwa, Maqbool, Shazia, Zaki, Maha S, Gleeson, Joseph G, Murphy, David, Galehdari, Hamid, Shariati, Gholamreza, Mazaheri, Neda, Sedaghat, Alireza, Lesca, Gaetan, Chatron, Nicolas, Salpietro, Vincenzo, Christoforou, Marilena, Houlden, Henry, Simonds, William F, Pedrazzini, Thierry, Maroofian, Reza, Reymond, Alexandre

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Bi-allelic premature truncating variants in LTBP1 cause cutis laxa syndrome de réir Pottie, Lore, Adamo, Christin S., Beyens, Aude, Lütke, Steffen, Tapaneeyaphan, Piyanoot, De Clercq, Adelbert, Salmon, Phil L., De Rycke, Riet, Gezdirici, Alper, Gulec, Elif Yilmaz, Khan, Naz, Urquhart, Jill E., Newman, William G., Metcalfe, Kay, Efthymiou, Stephanie, Maroofian, Reza, Anwar, Najwa, Maqbool, Shazia, Rahman, Fatima, Altweijri, Ikhlass, Alsaleh, Monerah, Abdullah, Sawsan Mohamed, Al-Owain, Mohammad, Hashem, Mais, Houlden, Henry, Alkuraya, Fowzan S., Sips, Patrick, Sengle, Gerhard, Callewaert, Bert

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Biallelic variants in HPDL cause pure and complicated hereditary spastic paraplegia de réir Wiessner, Manuela, Maroofian, Reza, Ni, Meng-Yuan, Pedroni, Andrea, Müller, Juliane S, Stucka, Rolf, Beetz, Christian, Efthymiou, Stephanie, Santorelli, Filippo M, Alfares, Ahmed A, Zhu, Changlian, Uhrova Meszarosova, Anna, Alehabib, Elham, Bakhtiari, Somayeh, Janecke, Andreas R, Otero, Maria Gabriela, Chen, Jin Yun Helen, Peterson, James T, Strom, Tim M, De Jonghe, Peter, Deconinck, Tine, De Ridder, Willem, De Winter, Jonathan, Pasquariello, Rossella, Ricca, Ivana, Alfadhel, Majid, van de Warrenburg, Bart P, Portier, Ruben, Bergmann, Carsten, Ghasemi Firouzabadi, Saghar, Jin, Sheng Chih, Bilguvar, Kaya, Hamed, Sherifa, Abdelhameed, Mohammed, Haridy, Nourelhoda A, Maqbool, Shazia, Rahman, Fatima, Anwar, Najwa, Carmichael, Jenny, Pagnamenta, Alistair, Wood, Nick W, Tran Mau-Them, Frederic, Haack, Tobias, Di Rocco, Maja, Ceccherini, Isabella, Iacomino, Michele, Zara, Federico, Salpietro, Vincenzo, Scala, Marcello, Rusmini, Marta, Xu, Yiran, Wang, Yinghong, Suzuki, Yasuhiro, Koh, Kishin, Nan, Haitian, Ishiura, Hiroyuki, Tsuji, Shoji, Lambert, Laëtitia, Schmitt, Emmanuelle, Lacaze, Elodie, Küpper, Hanna, Dredge, David, Skraban, Cara, Goldstein, Amy, Willis, Mary J H, Grand, Katheryn, Graham, John M, Lewis, Richard A, Millan, Francisca, Duman, Özgür, Dündar, Nihal, Uyanik, Gökhan, Schöls, Ludger, Nürnberg, Peter, Nürnberg, Gudrun, Catala Bordes, Andrea, Seeman, Pavel, Kuchar, Martin, Darvish, Hossein, Rebelo, Adriana, Bouçanova, Filipa, Medard, Jean-Jacques, Chrast, Roman, Auer-Grumbach, Michaela, Alkuraya, Fowzan S, Shamseldin, Hanan, Al Tala, Saeed, Rezazadeh Varaghchi, Jamileh, Najafi, Maryam, Deschner, Selina, Gläser, Dieter, Hüttel, Wolfgang, Kruer, Michael C, Kamsteeg, Erik-Jan, Takiyama, Yoshihisa, Züchner, Stephan, Baets, Jonathan, Synofzik, Matthis, Schüle, Rebecca, Horvath, Rita, Houlden, Henry, Bartesaghi, Luca, Lee, Hwei-Jen, Ampatzis, Konstantinos, Pierson, Tyler Mark, Senderek, Jan

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Erratum to: Biallelic variants in HPDL cause pure and complicated hereditary spastic paraplegia de réir Wiessner, Manuela, Maroofian, Reza, Ni, Meng-Yuan, Pedroni, Andrea, Müller, Juliane S, Stucka, Rolf, Beetz, Christian, Efthymiou, Stephanie, Santorelli, Filippo M, Alfares, Ahmed A, Zhu, Changlian, Uhrova Meszarosova, Anna, Alehabib, Elham, Bakhtiari, Somayeh, Janecke, Andreas R, Otero, Maria Gabriela, Chen, Jin Yun Helen, Peterson, James T, Strom, Tim M, De Jonghe, Peter, Deconinck, Tine, De Ridder, Willem, De Winter, Jonathan, Pasquariello, Rossella, Ricca, Ivana, Alfadhel, Majid, van de Warrenburg, Bart P, Portier, Ruben, Bergmann, Carsten, Ghasemi Firouzabadi, Saghar, Jin, Sheng Chih, Bilguvar, Kaya, Hamed, Sherifa, Abdelhameed, Mohammed, Haridy, Nourelhoda A, Maqbool, Shazia, Rahman, Fatima, Anwar, Najwa, Carmichael, Jenny, Pagnamenta, Alistair T, Wood, Nick W, Tran Mau-Them, Frederic, Haack, Tobias, Di Rocco, Maja, Ceccherini, Isabella, Iacomino, Michele, Zara, Federico, Salpietro, Vincenzo, Scala, Marcello, Rusmini, Marta, Xu, Yiran, Wang, Yinghong, Suzuki, Yasuhiro, Koh, Kishin, Nan, Haitian, Ishiura, Hiroyuki, Tsuji, Shoji, Lambert, Laëtitia, Schmitt, Emmanuelle, Lacaze, Elodie, Küpper, Hanna, Dredge, David, Skraban, Cara, Goldstein, Amy, Willis, Mary J H, Grand, Katheryn, Graham, John M, Lewis, Richard A, Millan, Francisca, Duman, Özgür, Olgac Dundar, Nihal, Uyanik, Gökhan, Schöls, Ludger, Nürnberg, Peter, Nürnberg, Gudrun, Català-Bordes, Andrea, Seeman, Pavel, Kuchar, Martin, Darvish, Hossein, Rebelo, Adriana, Bouçanova, Filipa, Medard, Jean-Jacques, Chrast, Roman, Auer-Grumbach, Michaela, Alkuraya, Fowzan S, Shamseldin, Hanan, Al Tala, Saeed, Rezazadeh Varaghchi, Jamileh, Najafi, Maryam, Deschner, Selina, Gläser, Dieter, Hüttel, Wolfgang, Kruer, Michael C, Kamsteeg, Erik-Jan, Takiyama, Yoshihisa, Züchner, Stephan, Baets, Jonathan, Synofzik, Matthis, Schüle, Rebecca, Horvath, Rita, Houlden, Henry, Bartesaghi, Luca, Lee, Hwei-Jen, Ampatzis, Konstantinos, Pierson, Tyler Mark, Senderek, Jan

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