Brain pathology of lissencephaly type 2 with an <i>ISPD</i> pathogenic variant-Reference-Cited by-同舟云学术

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Brain pathology of lissencephaly type 2 with an ISPD pathogenic variant

Published:2023-10 Issue:5 Volume:49 Page:
ISSN:0305-1846
Container-title:Neuropathology and Applied Neurobiology
language:en
Short-container-title:Neuropathology Appl Neurobio

Author:

Keith Julia¹^ORCID,Shannon Patrick²

Affiliation:

1. Laboratory Medicine and Molecular Diagnostics, Sunnybrook Health Sciences Centre, Laboratory Medicine and Pathobiology University of Toronto Toronto Ontario Canada

2. Pathology and Laboratory Medicine, Mount Sinai Hospital, Laboratory Medicine and Pathobiology University of Toronto Toronto Ontario Canada

Publisher

Wiley

Subject

Physiology (medical),Neurology (clinical),Neurology,Histology,Pathology and Forensic Medicine

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1111/nan.12939

Reference9 articles.

1. Identification of Mutations in TMEM5 and ISPD as a Cause of Severe Cobblestone Lissencephaly

2. OMIM.https://omim.org/entry/614631

3. ISPD loss-of-function mutations disrupt dystroglycan O-mannosylation and cause Walker-Warburg syndrome

4. Mutations in ISPD cause Walker-Warburg syndrome and defective glycosylation of α-dystroglycan

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