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Hyperekplexia, microcephaly and simplified gyral pattern caused by novel ASNS mutations, case report
Journal article   Open access  Peer reviewed

Hyperekplexia, microcephaly and simplified gyral pattern caused by novel ASNS mutations, case report

Mohammed Zain Seidahmed, Mustafa A. Salih, Omer B. Abdulbasit, Abdulmohsen Samadi, Khalid Al Hussien, Abeer M. Miqdad, Maha S. Biary, Anas M. Alazami, Ibrahim A. Alorainy, Mohammad M. Kabiraj, …
BMC neurology, Vol.16(1), pp.105-105
15/07/2016
PMCID: PMC4947274
PMID: 27422383

Abstract

Arthrogryposis ASNS gene Asparagine synthetase deficiency Brain malformation Case Report Hyperekplexia Whole exome sequencing
url
https://doi.org/10.1186/s12883-016-0633-0View
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