Further Delineation of the Clinical and Pathologic Features of HIKESHI-Related Hypomyelinating Leukodystrophy

BACKGROUND: A recurrent homozygous missense variant, c.160G>C;p.(Val54Leu) in HIKESHI, was found to cause a hypomyelinating leukodystrophy with high frequency in the Ashkenazi Jewish population. We provide extended phenotypic classification of this disorder based on clinical history of a further...

Πλήρης περιγραφή

Αποθηκεύτηκε σε:
Λεπτομέρειες βιβλιογραφικής εγγραφής
Τόπος έκδοσης:Pediatr Neurol
Κύριοι συγγραφείς: Helman, Guy, Zerem, Ayelet, Almad, Akshata, Hacker, Julia L., Woidill, Sarah, Sase, Sunetra, LeFevre, Alexandra N., Ekstein, Josef, Johansson, Martin M., Stutterd, Chloe A., Taft, Ryan J., Simons, Cas, Grinspan, Judith B., Pizzino, Amy, Schmidt, Johanna L., Harding, Brian, Hirsch, Yoel, Viaene, Angela N., Fattal-Valevski, Aviva, Vanderver, Adeline
Μορφή: Artigo
Γλώσσα:Inglês
Έκδοση: 2021
Θέματα:
Article
Διαθέσιμο Online:https://ncbi.nlm.nih.gov/pmc/articles/PMC8327280/
https://ncbi.nlm.nih.gov/pubmed/34111619
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.pediatrneurol.2021.04.014
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