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Примечания
Литература по клинической генетике и генетике развития огромна и постоянно увеличивается. Тем не менее я попытался дать сводку тех источников, где можно найти основные результаты или, в некоторых случаях, более подробные детали по каким-либо конкретным вопросам. Помимо этих комментариев самым важным источником информации для тех, кто хочет больше узнать о конкретных генетических нарушениях, может стать база данных в режиме он-лайн "Менделевское наследование у человека" ("Mendelian Inheritance in Man" – MIM), авторами и редакторами которой являются Виктор Маккьюсик (Victor A. McKusick) и его коллеги из Университета Джонса Хопкинса в Балтиморе и которая создана при поддержке Национального центра биотехнологической информации, США (National Center for Biotechnology Information, USA). В ней содержатся постоянно обновляемые описания каждого расстройства, перечисляются вызывающие их мутации, приводится соответствующая генетическая литература. Все это можно найти на сайте: