Author:
Nakamura Yukio,Kikugawa Shingo,Seki Shoji,Takahata Masahiko,Iwasaki Norimasa,Terai Hidetomi,Matsubara Mitsuhiro,Fujioka Fumio,Inagaki Hidehito,Kobayashi Tatsuya,Kimura Tomoatsu,Kurahashi Hiroki,Kato Hiroyuki
Publisher
Springer Science and Business Media LLC
Subject
General Biochemistry, Genetics and Molecular Biology,General Medicine
Reference30 articles.
1. Solomon BD (2011) VACTERL/VATER Association. Orphanet J Rare Dis 6:56
2. Reardon W, Zhou XP, Eng C (2001) A novel germline mutation of the PTEN gene in a patient with macrocephaly, ventricular dilatation, and features of VATER association. J Med Genet 38:820e3
3. Garcia-Barceló MM, Wong KK, Lui VC, Yuan ZW, So MT, Ngan ES et al (2008) Identification of a HOXD13 mutation in a VACTERL patient. Am J Med Genet 146A:3181e5
4. Stankiewicz P, Sen P, Bhatt SS, Storer M, Xia Z, Bejjani BA et al (2009) Genomic and genic deletions of the FOX gene cluster on 16q24.1 and inactivating mutations of FOXF1 cause alveolar capillary dysplasia and other malformations. Am J Hum Genet 84:780–791
5. Wessels MW, Kuchinka B, Heydanus R, Smit BJ, Dooijes D, de Krijger RR et al (2010) Polyalanine expansion in the ZIC3 gene leading to X- linked heterotaxy with VACTERL association: a new polyalanine dis- order? J Med Genet 47:351–355
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