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 stat...
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| Autors principals: | , , , , |
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| Format: | Artigo |
| Idioma: | Inglês |
| Publicat: |
"Paediatrician" Publishers LLC
2021-10-01
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| Col·lecció: | Вопросы современной педиатрии |
| Matèries: | |
| Accés en línia: | https://vsp.spr-journal.ru/jour/article/view/2700 |
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