Craniosynostosis as a clinical and diagnostic problem: molecular pathology and genetic counseling

Author:

Kutkowska-Kaźmierczak Anna,Gos Monika,Obersztyn Ewa

Publisher

Springer Science and Business Media LLC

Subject

Genetics,General Medicine

Reference70 articles.

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2. Arnaud-López L, Fragoso R, Mantilla-Capacho J, Barros-Núñez P (2007) Crouzon with acanthosis nigricans. Further delineation of the syndrome. Clin Genet 72(5):405–410

3. Arts H, Knoers N (2013) Cranioectodermal dysplasia. In: Adam MP, Ardinger HH, Pagon RA et al (eds) GeneReviews® [Internet]. University of Washington, Seattle; 1993–2017. Available online at: https://www.ncbi.nlm.nih.gov/books/NBK154653

4. Bezniakow N, Gos M, Obersztyn E (2014) The RASopathies as an example of RAS/MAPK pathway disturbances—clinical presentation and molecular pathogenesis of selected syndromes. Dev Period Med 18(3):285–296

5. Boulet SL, Rasmussen SA, Honein MA (2008) A population-based study of craniosynostosis in metropolitan Atlanta, 1989–2003. Am J Med Genet A 146A(8):984–991

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