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DLG4-related synaptopathy: a new rare brain disorder.
Genet Med. 2021 May;23(5):888-899. doi: 10.1038/s41436-020-01075-9. Epub 2021 Feb 17.
Genet Med. 2021.
PMID: 33597769
Free article.
Normal phenotype in two brothers with a full FMR1 mutation.
Smeets HJ, Smits AP, Verheij CE, Theelen JP, Willemsen R, van de Burgt I, Hoogeveen AT, Oosterwijk JC, Oostra BA.
Smeets HJ, et al. Among authors: van de burgt i.
Hum Mol Genet. 1995 Nov;4(11):2103-8. doi: 10.1093/hmg/4.11.2103.
Hum Mol Genet. 1995.
PMID: 8589687
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Infant with MCA and severe cutis laxa due to a de novo duplication 11p of paternal origin.
Gardeitchik T, de Leeuw N, Nijtmans L, Jira P, Kozicz T, Czako M, van de Burgt I, Morava E.
Gardeitchik T, et al. Among authors: van de burgt i.
Am J Med Genet A. 2012 Feb;158A(2):469-72. doi: 10.1002/ajmg.a.34410. Epub 2011 Dec 15.
Am J Med Genet A. 2012.
PMID: 22173889
No abstract available.
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