Biallelic variants in LINGO1are associated with autosomal recessive intellectual disability, microcephaly, speech and motor delay

Autor: Ansar, Muhammad, Riazuddin, Saima, Sarwar, Muhammad Tahir, Makrythanasis, Periklis, Paracha, Sohail Aziz, Iqbal, Zafar, Khan, Jamshed, Assir, Muhammad Zaman, Hussain, Mureed, Razzaq, Attia, Polla, Daniel Lôpo, Taj, Abid Sohail, Holmgren, Asbjørn, Batool, Naila, Misceo, Doriana, Iwaszkiewicz, Justyna, de Brouwer, Arjan P.M., Guipponi, Michel, Hanquinet, Sylviane, Zoete, Vincent, Santoni, Federico A., Frengen, Eirik, Ahmed, Jawad, Riazuddin, Sheikh, van Bokhoven, Hans, Antonarakis, Stylianos E.
Zdroj: Genetics in Medicine; July 2018, Vol. 20 Issue: 7 p778-784, 7p
Abstrakt: To elucidate the novel molecular cause in two unrelated consanguineous families with autosomal recessive intellectual disability.
Databáze: Supplemental Index
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