ГЛАВА 6. ДИАГНОЗ
1. Jacqueline Noonan, ‘Hypertelorism with Turner Phenotype’,
2. Interviews with Dr Noonan, Iowa Public Radio, February 2014 and Blogtalkradio.com, February 2010.
3. Judith L Ross et al., ‘Turner Syndrome: Toward Early Recognition and Improved Outcomes’, Medscape.org, accessed 27 October 2017.
4. JA Noonan, ‘Noonan Syndrome: A Historical Perspective’,
5. Undiagnosed.org.uk, accessed 11 October 2017.
6. https://ghr.nlm.nih.gov/gene/PTPN11#conditions, accessed 23 August 2018.
7. За объяснение благодарю RasopathiesNet.
8. Psychopathological features in F Perrino et al., ‘Noonan Syndrome’,
9. There is some evidence older men can pass along this de novo mutation in their sperm. Author interview, Beth Stonach from RasopathiesNet, 2018.
10. Marco Tartaglia et al., ‘Mutations in PTPN11, Encoding the Protein Tyrosine Phosphatase SHP-2, Cause Noonan Syndrome’,
11. C Ruth Jamieson et al., ‘Mapping a Gene for Noonan Syndrome to the Long Arm of Chromosome 12’,
12. William Tidyman and Katherine Rauen, ‘The Rasopathies: Developmental Syndromes of the RAS/MAPK Pathway’,
13. According to Pia Ostergaard, reader in Human Genetics, St George’s Hospital.