Bi-allelic variants in SPATA5L1 lead to intellectual disability, spastic-dystonic cerebral palsy, epilepsy, and hearing loss

Author:

Richard Elodie M.,Bakhtiari Somayeh,Marsh Ashley P.L.,Kaiyrzhanov Rauan,Wagner Matias,Shetty Sheetal,Pagnozzi Alex,Nordlie Sandra M.,Guida Brandon S.,Cornejo Patricia,Magee Helen,Liu James,Norton Bethany Y.,Webster Richard I.,Worgan Lisa,Hakonarson Hakon,Li Jiankang,Guo Yiran,Jain Mahim,Blesson Alyssa,Rodan Lance H.,Abbott Mary-Alice,Comi Anne,Cohen Julie S.,Alhaddad Bader,Meitinger Thomas,Lenz Dominic,Ziegler Andreas,Kotzaeridou Urania,Brunet Theresa,Chassevent Anna,Smith-Hicks Constance,Ekstein Joseph,Weiden Tzvi,Hahn Andreas,Zharkinbekova Nazira,Turnpenny Peter,Tucci Arianna,Yelton Melissa,Horvath Rita,Gungor Serdal,Hiz Semra,Oktay Yavuz,Lochmuller Hanns,Zollino Marcella,Morleo Manuela,Marangi Giuseppe,Nigro Vincenzo,Torella Annalaura,Pinelli Michele,Amenta Simona,Husain Ralf A.,Grossmann Benita,Rapp Marion,Steen Claudia,Marquardt Iris,Grimmel Mona,Grasshoff Ute,Korenke G. Christoph,Owczarek-Lipska Marta,Neidhardt John,Radio Francesca Clementina,Mancini Cecilia,Claps Sepulveda Dianela Judith,McWalter Kirsty,Begtrup Amber,Crunk Amy,Guillen Sacoto Maria J.,Person Richard,Schnur Rhonda E.,Mancardi Maria Margherita,Kreuder Florian,Striano Pasquale,Zara Federico,Chung Wendy K.,Marks Warren A.,van Eyk Clare L.,Webber Dani L.,Corbett Mark A.,Harper Kelly,Berry Jesia G.,MacLennan Alastair H.,Gecz Jozef,Tartaglia Marco,Salpietro Vincenzo,Christodoulou John,Kaslin Jan,Padilla-Lopez Sergio,Bilguvar Kaya,Munchau Alexander,Ahmed Zubair M.,Hufnagel Robert B.,Fahey Michael C.,Maroofian Reza,Houlden Henry,Sticht Heinrich,Mane Shrikant M.,Rad Aboulfazl,Vona Barbara,Jin Sheng Chih,Haack Tobias B.,Makowski Christine,Hirsch Yoel,Riazuddin Saima,Kruer Michael C.

Publisher

Elsevier BV

Subject

Genetics (clinical),Genetics

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