Novel Digital Anomalies, Hippocampal Atrophy, and Mutations Expand the Genotypic and Phenotypic Spectra of CNKSR2 in the Houge Type of X-Linked Syndromic Intellectual Development Disorder (MRXSHG)

Ghasemi, Mohammad-Reza; Fateh, Sahand Tehrani; Ben-Mahmoud, Afif; Gupta, Vijay; Stuhn, Lara G.; Lesca, Gaetan; Chatron, Nicolas; Platzer, Konrad; Edery, Patrick; Sadeghi, Hossein; Isidor, Bertrand; Cogne, Benjamin; Schulz, Heidi L.; Krauspe-Stubecke, Ilona; Periyasamy, Radhakrishnan; Nampoothiri, Sheela; Mirfakhraie, Reza; Alijanpour, Sahar; Syrbe, Steffen; Pfeifer, Ulrich; Spranger, Stephanie; Grundmann-Hauser, Kathrin; Haack, Tobias B.; Papadopoulou, Maria T.; da Silva Goncalves, Tayrine; Panagiotakaki, Eleni; Arzimanoglou, Alexis; Tonekaboni, Seyed Hassan; Rossi, Massimiliano; Korenke, G. Christoph; Lacassie, Yves; Jang, Mi-Hyeon; Layman, Lawrence C.; Miryounesi, Mohammad; Kim, Hyung-Goo

Novel Digital Anomalies, Hippocampal Atrophy, and Mutations Expand the Genotypic and Phenotypic Spectra of CNKSR2 in the Houge Type of X-Linked Syndromic Intellectual Development Disorder (MRXSHG)

Autor(en):

Ghasemi, Mohammad-Reza; Fateh, Sahand Tehrani; Ben-Mahmoud, Afif; Gupta, Vijay; Stuhn, Lara G.; Lesca, Gaetan; Chatron, Nicolas; Platzer, Konrad; Edery, Patrick; Sadeghi, Hossein; Isidor, Bertrand; Cogne, Benjamin; Schulz, Heidi L.; Krauspe-Stubecke, Ilona; Periyasamy, Radhakrishnan; Nampoothiri, Sheela; Mirfakhraie, Reza; Alijanpour, Sahar; Syrbe, Steffen; Pfeifer, Ulrich; Spranger, Stephanie; Grundmann-Hauser, Kathrin; Haack, Tobias B.; Papadopoulou, Maria T.; da Silva Goncalves, Tayrine; Panagiotakaki, Eleni; Arzimanoglou, Alexis; Tonekaboni, Seyed Hassan; Rossi, Massimiliano; Korenke, G. Christoph; Lacassie, Yves; Jang, Mi-Hyeon; Layman, Lawrence C.; Miryounesi, Mohammad; Kim, Hyung-Goo

Tübinger Autor(en):

Grundmann-Hauser, Kathrin
Stühn, Lara
Haack, Tobias

Erschienen in:

American Journal of Medical Genetics Part A (2025), Bd. 197, H. 5

Verlagsangabe:

Hoboken : Wiley

Sprache:

Englisch

Referenz zum Volltext:

http://dx.doi.org/10.1002/ajmg.a.63963

ISSN:

1552-4825