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Am J Med Genet A. 2017 Jul;173(7):1994-1995. doi: 10.1002/ajmg.a.38201. Epub 2017 May 5.

Novel features of Helsmoortel-Van der Aa/ADNP syndrome in a boy with a known pathogenic mutation in the ADNP gene detected by exome sequencing.

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1
McMaster University Medical Center, Hamilton, Ontario, Canada.
PMID:
28475273
DOI:
10.1002/ajmg.a.38201

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