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MED27, SLC6A7, and MPPE1 Variants in a Complex Neurodevelopmental Disorder with Severe Dystonia.
Mov Disord. 2022 Oct;37(10):2139-2146. doi: 10.1002/mds.29147. Epub 2022 Jul 25.
Mov Disord. 2022.
PMID: 35876425
Free PMC article.
PIGF deficiency causes a phenotype overlapping with DOORS syndrome.
Salian S, Benkerroum H, Nguyen TTM, Nampoothiri S, Kinoshita T, Félix TM, Stewart F, Sisodiya SM, Murakami Y, Campeau PM.
Salian S, et al. Among authors: benkerroum h.
Hum Genet. 2021 Jun;140(6):879-884. doi: 10.1007/s00439-020-02251-2. Epub 2021 Jan 2.
Hum Genet. 2021.
PMID: 33386993
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