Саратовский научно-медицинский ЖУРНАЛ

Офтальмологический статус при мутации гена TCOF1 (клинический случай)

Резюме:

Представленный клинический случай демонстрирует возможности зрительного анализатора у пациентов превербального, вербального возраста с синдромом Тричера Коллинза, акцентируя внимание на важности ранней диагностики и лечения.

Литература:
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2. Sanchez E, Laplace-Builhe B, Mau-Them FT, et al. POLR1 В and neural crest cell anomalies in Treacher Collins syndrome type 4. Genet Med 2020; 22 (3): 547-56.
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7. Tanaka Y, Kanenishi K, Tanaka H, et al. Antenatal three-dimensional sonographic features of Treacher Collins syndrome. Ultrasound Obstet Gynecol 2002; 19 (4): 414-5.
8. Conley ZR, Hague M, Kurosaka H, et al. A quantitative method for defining high-arched palate using the TCOF1 (+/-) mutant mouse as a model. Dev Biol 2016; 415 (2): 296-305.
9. Lau MC, Kwong EM, Lai KP, et al. Pathogenesis of POLR1 C-dependent type 3 Treacher Collins syndrome revealed by a zebrafish model. Biochim Biophys Acta 2016; 1862 (6): 1147-58.
10. Franceschetti A, Klein D. Mandibulo-facial dysostosis: new hereditary syndrome. Acta Ophthalmol 1949; 27 (2): 143-224.

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