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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| Main Authors: | , , , , |
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| Format: | Book |
| Published: |
"Paediatrician" Publishers LLC,
2021-10-01T00:00:00Z.
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| Call Number: |
A1234.567 |
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| Copy 1 | Available |