학술논문
Biallelic variants in TMEM222cause a new autosomal recessive neurodevelopmental disorder
Document Type
Article
Author
Polla, Daniel L.; Farazi Fard, Mohammad Ali; Tabatabaei, Zahra; Habibzadeh, Parham; Levchenko, Olga A.; Nikuei, Pooneh; Makrythanasis, Periklis; Hussain, Mureed; von Hardenberg, Sandra; Zeinali, Sirous; Fallah, Mohammad-Sadegh; Schuurs-Hoeijmakers, Janneke H.M.; Shahzad, Mohsin; Fatima, Fareeha; Fatima, Neelam; Kaat, Laura Donker; Bruggenwirth, Hennie T.; Fleming, Leah R.; Condie, John; Ploski, Rafal; Pollak, Agnieszka; Pilch, Jacek; Demina, Nina A.; Chukhrova, Alena L.; Sergeeva, Vasilina S.; Venselaar, Hanka; Masri, Amira T.; Hamamy, Hanan; Santoni, Federico A.; Linda, Katrin; Ahmed, Zubair M.; Nadif Kasri, Nael; de Brouwer, Arjan P.M.; Bergmann, Anke K.; Hethey, Sven; Yavarian, Majid; Ansar, Muhammad; Riazuddin, Saima; Riazuddin, Sheikh; Silawi, Mohammad; Ruggeri, Gaia; Pirozzi, Filomena; Eftekhar, Ebrahim; Taghipour Sheshdeh, Afsaneh; Bahramjahan, Shima; Mirzaa, Ghayda M.; Lavrov, Alexander V.; Antonarakis, Stylianos E.; Faghihi, Mohammad Ali; van Bokhoven, Hans
Source
Genetics in Medicine; July 2021, Vol. 23 Issue: 7 p1246-1254, 9p
Subject
Language
ISSN
10983600; 15300366
Abstract
To elucidate the novel molecular cause in families with a new autosomal recessive neurodevelopmental disorder.