Mutation in the CREBBP Gene in the Girl with Toe Walking Syndrome: Clinical Case

Baclground. Pathogenic variants of the CREBBP gene have been revealed in patients with Rubinstein-Taybi and Menke-Hennekam syndromes, however, the toe walking symptom was not mentioned in these pathologies.Clinical Case Description. The pathogenic nucleotide variant c.5600G>A in heterozygous...

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出版年:	Вопросы современной педиатрии
主要な著者:	David Pomarino, Anneke Thren, Johanna R. Thren, Kevin Rostasy, Anna A. Emelina
フォーマット:	論文
言語:	英語
出版事項:	"Paediatrician" Publishers LLC 2021-10-01
主題:	toe walking mutation crebbp gene heredity
オンライン･アクセス:	https://vsp.spr-journal.ru/jour/article/view/2700