Редкий генетический синдром Хельсмуртел-ван дер Аа у пациента с эпилепсией, задержкой развития, нарушением поведения и выявленной мутацией в гене ADNP
https://doi.org/10.25557/2073-7998.2020.11.47-53
Аннотация
Об авторах
Т. В. КожановаРоссия
С. С. Жилина
Россия
Т. И. Мещерякова
Россия
Е. Г. Лукьянова
Россия
К. В. Осипова
Россия
С. О. Айвазян
Россия
Н. Н. Заваденко
Россия
А. Г. Притыко
Россия
Список литературы
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17. Verloes A., Bremond-Gignac D., Isidor B., et al. Blepharophimosis-mental retardation (BMR) syndromes: a proposed clinical classification of the so-called Ohdo syndrome, a delineation of two new BMR syndromes, one xlinked and one autosomal recessive. Am J Med Genet. 2006;140:1285e96.
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Рецензия
Для цитирования:
Кожанова Т.В., Жилина С.С., Мещерякова Т.И., Лукьянова Е.Г., Осипова К.В., Айвазян С.О., Заваденко Н.Н., Притыко А.Г. Редкий генетический синдром Хельсмуртел-ван дер Аа у пациента с эпилепсией, задержкой развития, нарушением поведения и выявленной мутацией в гене ADNP. Медицинская генетика. 2020;19(11):47-53. https://doi.org/10.25557/2073-7998.2020.11.47-53
For citation:
Kozhanova T.V., Zhilina S.S., Meshheryakova T.I., Lukyanova E.G., Osipova K.V., Ayvazyan S.O., Zavadenko N.N., Prityko A.G. Helsmoortel-van der Aa syndrome syndrome in a patient with epilepsy, developmental delay, intellectual disability and autism spectrum disorder. Medical Genetics. 2020;19(11):47-53. (In Russ.) https://doi.org/10.25557/2073-7998.2020.11.47-53