Anaesthesia and orphan diseases: Bohring-Opitz syndrome
- PMID: 34101642
- DOI: 10.1097/EJA.0000000000001317
Anaesthesia and orphan diseases: Bohring-Opitz syndrome
Comment on
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Severe end of Opitz trigonocephaly (C) syndrome or new syndrome?Am J Med Genet. 1999 Aug 27;85(5):438-46. doi: 10.1002/(sici)1096-8628(19990827)85:5<438::aid-ajmg2>3.0.co;2-a. Am J Med Genet. 1999. PMID: 10405439 Review.
References
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- Bohring A, Silengo M, Lerone M, et al. Severe end of Opitz trigonocephaly (C) syndrome or new syndrome? Am J Med Genet 1999; 85:438–446.
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- Hoischen A, Van Bon B, Rodriguez-Santiago B, et al. De novo nonsense mutations in ASXL1 cause Bohring–Opitz syndrome. Nat Genet 2011; 43:729–731.
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- Verma B, Abhinay A, Singh A, et al. Double outlet right ventricle and aortopulmonary window in a neonate with Bohring–Opitz (Oberklaid–Danks) syndrome: first case report. J Fam Med Prim Care 2019; 8:1279–1281.
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- Lotz G, Schalk R, Byhahn C. Laryngeal tube S-II to facilitate fiberoptic endotracheal intubation in an infant with Boring–Opitz syndrome. Anesth Analg 2007; 105:1516–1517.
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- Russell B, Johnston J, Biesecker L, et al. Clinical management of patients with ASXL1 mutations and Bohring–Opitz syndrome, emphasizing the need for Wilms tumor surveillance. Am J Med Genet 2015; 167A:2122–2131.
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