Biallelic variants in TMEM222 cause a new autosomal recessive neurodevelopmental disorder

Autor: Daniel L. Polla, Sirous Zeinali, Nina A. Demina, Majid Yavarian, Stylianos E. Antonarakis, Sandra von Hardenberg, Saima Riazuddin, Filomena Pirozzi, Sven Hethey, Zubair M. Ahmed, Leah Fleming, Jacek Pilch, John Condie, Vasilina S. Sergeeva, Mohammad Ali Faghihi, Nael Nadif Kasri, Shima Bahramjahan, Neelam Fatima, Periklis Makrythanasis, Muhammad Ansar, Alena L. Chukhrova, Anke K. Bergmann, Hanka Venselaar, Mohsin Shahzad, Arjan P.M. de Brouwer, Mohammad Ali Farazi Fard, Hans van Bokhoven, Ghayda M. Mirzaa, Mohammad-Sadegh Fallah, Hennie T. Brüggenwirth, Olga Levchenko, Laura Donker Kaat, Afsaneh Taghipour Sheshdeh, Pooneh Nikuei, Amira Masri, Mureed Hussain, Agnieszka Pollak, Federico Santoni, Katrin Linda, Alexander Lavrov, Fareeha Fatima, Ebrahim Eftekhar, Hanan Hamamy, Gaia Ruggeri, Sheikh Riazuddin, Zahra Tabatabaei, Janneke H M Schuurs-Hoeijmakers, Rafał Płoski, Parham Habibzadeh, Mohammad Silawi

Publikováno v: Genetics in Medicine, 23(7), 1246-1254. Lippincott Williams & Wilkins
Genetics in Medicine, 23, 1246-1254
Genetics in Medicine, 23, 7, pp. 1246-1254
Genet Med

Purpose: To elucidate the novel molecular cause in families with a new autosomal recessive neurodevelopmental disorder. Methods: A combination of exome sequencing and gene matching tools was used to identify pathogenic variants in 17 individuals. Qua

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::dd3f5a9e869e71a7190c0baaa8bc7696
https://pure.eur.nl/en/publications/01ef9fa8-3fe3-46f4-892f-0fdf1d5a6b76