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2013 1
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Cited In for PMID: 23696469

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Page 1
Clinical delineation of 18q11-q12 microdeletion: Intellectual disability, speech and behavioral disorders, and conotruncal heart defects.
Rojnueangnit K, Charalsawadi C, Thammachote W, Pradabmuksiri A, Tim-Aroon T, Novelli A, Loddo S, Briuglia S, Concetta CM, Wattanasirichaigoon D, Jinawath N. Rojnueangnit K, et al. Mol Genet Genomic Med. 2019 Sep;7(9):e896. doi: 10.1002/mgg3.896. Epub 2019 Aug 7. Mol Genet Genomic Med. 2019. PMID: 31390163 Free PMC article. Clinical Trial.
A novel mutation in GATA6 causes pancreatic agenesis.
Stanescu DE, Hughes N, Patel P, De León DD. Stanescu DE, et al. Pediatr Diabetes. 2015 Feb;16(1):67-70. doi: 10.1111/pedi.12111. Epub 2014 Jan 17. Pediatr Diabetes. 2015. PMID: 24433315 Free PMC article.
Whole exome sequencing identifies de novo mutations in GATA6 associated with congenital diaphragmatic hernia.
Yu L, Bennett JT, Wynn J, Carvill GL, Cheung YH, Shen Y, Mychaliska GB, Azarow KS, Crombleholme TM, Chung DH, Potoka D, Warner BW, Bucher B, Lim FY, Pietsch J, Stolar C, Aspelund G, Arkovitz MS; University of Washington Center for Mendelian Genomics; Mefford H, Chung WK. Yu L, et al. J Med Genet. 2014 Mar;51(3):197-202. doi: 10.1136/jmedgenet-2013-101989. Epub 2014 Jan 2. J Med Genet. 2014. PMID: 24385578 Free PMC article.