Clustered variants in the 5 ' coding region of TRA2B cause a distinctive neurodevelopmental syndrome

Ramond, Francis; Dalgliesh, Caroline; Grimmel, Mona; Wechsberg, Oded; Vetro, Annalisa; Guerrini, Renzo; FitzPatrick, David; Poole, Rebecca L.; Lebrun, Marine; Bayat, Allan; Grasshoff, Ute; Bertrand, Miriam; Witt, Dennis; Turnpenny, Peter D.; Faundes, Victor; Santa Maria, Lorena; Fuentes, Carolina Mendoza; Mabe, Paulina; Hussain, Shaun A.; Mullegama, Sureni V.; Torti, Erin; Oehl-Jaschkowitz, Barbara; Salmon, Lina Basel; Orenstein, Naama; Shahar, Noa Ruhrman; Hagari, Ofir; Bazak, Lily; Hoffjan, Sabine; Prada, Carlos E.; Haack, Tobias; Elliott, David J.

Clustered variants in the 5 ' coding region of TRA2B cause a distinctive neurodevelopmental syndrome

Autor(en):

Ramond, Francis; Dalgliesh, Caroline; Grimmel, Mona; Wechsberg, Oded; Vetro, Annalisa; Guerrini, Renzo; FitzPatrick, David; Poole, Rebecca L.; Lebrun, Marine; Bayat, Allan; Grasshoff, Ute; Bertrand, Miriam; Witt, Dennis; Turnpenny, Peter D.; Faundes, Victor; Santa Maria, Lorena; Fuentes, Carolina Mendoza; Mabe, Paulina; Hussain, Shaun A.; Mullegama, Sureni V.; Torti, Erin; Oehl-Jaschkowitz, Barbara; Salmon, Lina Basel; Orenstein, Naama; Shahar, Noa Ruhrman; Hagari, Ofir; Bazak, Lily; Hoffjan, Sabine; Prada, Carlos E.; Haack, Tobias; Elliott, David J.

Tübinger Autor(en):

Grimmel, Mona
Lebrun, Marine
Witt, Dennis
Haack, Tobias
Bertrand, Miriam

Erschienen in:

Genetics in Medicine (2023), Bd. 25, H. 4

Verlagsangabe:

Elsevier Science Inc

Sprache:

Englisch

Referenz zum Volltext:

http://dx.doi.org/10.1016/j.gim.2022.100003

ISSN:

1098-3600