Article
Biallelic variants in LINGO1 are associated with autosomal recessive intellectual disability, microcephaly, speech and motor delay.
Genetics in medicine : official journal of the American College of Medical Genetics - 1 Jul 2018
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
Abstract excerpt
PURPOSE: To elucidate the novel molecular cause in two unrelated consanguineous families with autosomal recessive intellectual disability. METHODS: A combination of homozygosity mapping and exome sequencing was used to locate the plausible genetic defect in family F162, while only exome sequencing was followed in the family PKMR65. The protein 3D structure was visualized with the University of California-San...
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