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Page 1
Phenotypic spectrum of Au-Kline syndrome: a report of six new cases and review of the literature.
Eur J Hum Genet. 2018 Sep;26(9):1272-1281. doi: 10.1038/s41431-018-0187-2. Epub 2018 Jun 14.
Eur J Hum Genet. 2018.
PMID: 29904177
Free PMC article.
Review.
Cover Image, Volume 173A, Number 10, October 2017.
Bashir RA, Dixit A, Goedhart C, Parboosingh JS, Innes AM; Care for Rare Canada Consortium; Ferreira P, Hasan SU, Au PB.
Bashir RA, et al.
Am J Med Genet A. 2017 Oct;173(10):i. doi: 10.1002/ajmg.a.38481.
Am J Med Genet A. 2017.
PMID: 28921853
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Lin-Gettig syndrome: Craniosynostosis expands the spectrum of the KAT6B related disorders.
Bashir RA, Dixit A, Goedhart C, Parboosingh JS, Innes AM; Care for Rare Canada Consortium; Ferreira P, Hasan SU, Au PB.
Bashir RA, et al.
Am J Med Genet A. 2017 Oct;173(10):2596-2604. doi: 10.1002/ajmg.a.38355. Epub 2017 Jul 11.
Am J Med Genet A. 2017.
PMID: 28696035
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GeneMatcher aids in the identification of a new malformation syndrome with intellectual disability, unique facial dysmorphisms, and skeletal and connective tissue abnormalities caused by de novo variants in HNRNPK.
Au PYB, You J, Caluseriu O, Schwartzentruber J, Majewski J, Bernier FP, Ferguson M; Care for Rare Canada Consortium; Valle D, Parboosingh JS, Sobreira N, Innes AM, Kline AD.
Au PYB, et al.
Hum Mutat. 2015 Oct;36(10):1009-1014. doi: 10.1002/humu.22837. Epub 2015 Aug 6.
Hum Mutat. 2015.
PMID: 26173930
Free PMC article.
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