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...
Main Authors: | David Pomarino, Anneke Thren, Johanna R. Thren, Kevin Rostasy, Anna A. Emelina |
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Format: | Article |
Language: | English |
Published: |
"Paediatrician" Publishers LLC
2021-10-01
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Series: | Вопросы современной педиатрии |
Subjects: | |
Online Access: | https://vsp.spr-journal.ru/jour/article/view/2700 |
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