Homozygous Null TBX4 Mutations Lead to Posterior Amelia with Pelvic and Pulmonary Hypoplasia
Ariana Kariminejad, Bruno Reversade(Koç University), Mojila Nasseri, Andrea Superti‐Furga(Genedata (Switzerland)), Fatemeh Ahangari, Mohammad Reza Abbaszadegan(Mashhad University of Medical Sciences), Afrooz Azad(Hormozgan University of Medical Sciences), Homa Tajsharghi(University of Skövde), Emmanuelle Szenker‐Ravi(Agency for Science, Technology and Research), Siavash Ghaderi‐Sohi, Kris Vleminckx(Ghent University), Hossein Najmabadi(Yahoo (Spain)), Thomas Naert(University of Zurich), Hong Thi Tran(Ghent University), Minoo Rajaei(Hormozgan University of Medical Sciences), Reza Maroofian(National Hospital for Neurology and Neurosurgery), Caroline Lekszas(University of Würzburg), Pooneh Nikuei(Hormozgan University of Medical Sciences), Ali‐Reza Moslemi(Sahlgrenska University Hospital), Thomas Haaf(Unknown)
Cited by 29
Related Papers
Mutations in NSUN2 Cause Autosomal- Recessive Intellectual Disability
|The American Journal of Human Genetics|2012|273
Homozygous Mutations in CSF1R Cause a Pediatric-Onset Leukoencephalopathy and Can Result in Congenital Absence of Microglia
|The American Journal of Human Genetics|2019|263
AMPA receptor GluA2 subunit defects are a cause of neurodevelopmental disorders
|Nature Communications|2019|249
Genetics of intellectual disability in consanguineous families
|Molecular Psychiatry|2018|217