Craniosinostosi e sindromi associate: basi genetiche

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Focus Neurologia

 

Benedetta Toschi

UO Medicina 1

AouPisana

Via Roma 67 – 5615 Pisa

b.toschi@ao-pisa.toscana.it

Il Pediatra, 3-19, pagg.40-43

Bibliografia

 

  1. Boulet SL, Rasmussen SA, Honein MA. A population-based study of craniosynostosis in metropolitan Atlanta, 1989–2003. Am J Med Genet Part A 2008; 146A:984–991.

 

  1. Timberlake AT, Persing JA. Genetics of nonsyndromic craniosynostosis. Plast Reconstr Surg 2018; 141:1508-1516.

 

  1. Twigg SR, Wilkie AO. A genetic-pathophysiological framework for craniosynostosis. Am J Hum Genet 2015; 97:359-377.

 

  1. Johnson DE, Williams LT. Structural and functional diversity in the FGF receptor multigene family. Adv Cancer Res 1993; 60:1-41.

 

  1. Slaney SF, Oldridge M, Hurst JA, et al. Differential effects of FGFR2 mutations on syndactyly and cleft palate in Apert syndrome. Am J Hum Genet 1996; 58: 923–932.

 

  1. Cohen MM Jr. Pfeiffer syndrome update, clinical subtypes, and guidelines for differential diagnosis. Am J Med Genet 1993; 45: 300-307.

 

  1. Lajeunie E, Heuertz S, El Ghouzzi V, et al. Mutation screening in patients with syndromic craniosynostoses indicates that a limited number of recurrent FGFR2 mutations accounts for severe forms of Pfeiffer syndrome. Eur J Hum Genet 2006; 14: 289-298.

 

  1. Scriver CR, Beaudet AL, Sly WS, et al. The Metabolic and Molecular Bases of Inherited Disease. Ottava edizione. New York: McGraw-Hill. 2000.

 

  1. Meyers GA, Day D, Goldberg R, et al. FGFR2 exon IIIa and IIIc mutations in Crouzon, Jackson-Weiss, and Pfeiffer syndromes: evidence for missense changes, insertions, and a deletion due to alternative RNA splicing. Am J Hum Genet 1996; 58: 491-498.

 

  1. Wenger TL, Bhoj EJ, Wetmore RF, et al. Beare-Stevenson syndrome: two new patients, including a novel finding of tracheal cartilaginous sleeve. Am J Med Genet 2015; 167A: 852-857.

 

  1. Muenke M, Gripp KW, McDonald-McGinn DM, et al. A unique point mutation in the fibroblast growth factor receptor 3 gene (FGFR3) defines a new craniosynostosis syndrome. Am J Hum Genet 1997; 60: 555-564.

 

  1. Meyers GA, Orlow SJ, Munro IR, et al. Fibroblast growth factor receptor 3 (FGFR3) transmembrane mutation in Crouzon syndrome with acanthosis nigricans. Nat Genet 1995; 11: 462-464.

 

  1. Howard TD, Paznekas WA, Green ED, et al. Mutations in TWIST, a basic helix-loop-helix transcription factor, in Saethre-Chotzen syndrome. Nat Genet 1997; 15: 36-41.

 

  1. Lyon SM, Waggoner D, Halbach S, et al. Syndromic craniosynostosis associated with microdeletion of chromosome 19p13.12–19p13.2. Genes Dis 2015; 2: 347-352.

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