Open AccessBiallelic variants in LINGO1 are associated with autosomal recessive intellectual disability, microcephaly, speech and motor delay
Author(s) -
Muhammad Ansar,
Saima Riazuddin,
Muhammad Tahir Sarwar,
Periklis Makrythanasis,
Sohail Aziz Paracha,
Zafar Iqbal,
Jamshed Khan,
Muhammad Zaman Khan Assir,
Mureed Hussain,
Attia Razzaq,
D.L. Polla,
Abid Sohail Taj,
Asbjørn Holmgren,
Naila Batool,
Doriana Misceo,
Justyna Iwaszkiewicz,
Arjan P.M. de Brouwer,
Michel Guipponi,
Sylviane Hanquinet,
Vincent Zoete,
Federico Santoni,
Eirik Frengen,
Jawad Ahmed,
Sheikh Riazuddin,
Hans van Bokhoven,
Stylianos E. Antonarakis
Publication year - 2017
Publication title -
genetics in medicine
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 3.509
H-Index - 128
eISSN - 1530-0366
pISSN - 1098-3600
DOI - 10.1038/gim.2017.113
Subject(s) - exome sequencing , missense mutation , microcephaly , intellectual disability , genetics , biology , exome , zebrafish , disease gene identification , phenotype , loss function , gene
To elucidate the novel molecular cause in two unrelated consanguineous families with autosomal recessive intellectual disability.
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