A mutation in the major autophagy gene, WIPI2, associated with global developmental abnormalities
We describe a large consanguineous pedigree from a remote area of Northern Pakistan, with a complex developmental disorder associated with wide-ranging symptoms, including mental retardation, speech and language impairment and other neurological, psychiatric, skeletal and cardiac abnormalities. We i...
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| Hlavní autoři: | , , , , , , , , , , , , , , |
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| Médium: | Artigo |
| Jazyk: | angličtina |
| Vydáno: |
2019
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| On-line přístup: | https://doi.org/10.1093/brain/awz075 https://academic.oup.com/brain/article-pdf/142/5/1242/28538161/awz075.pdf |
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