Rehabilitimi në patologjitë e rralla. Sindroma coffin+siris.

Autorët

  • Ledina Nikolla

Abstrakti

Sindroma Coffin-Siris është një sëmundje e rrallë gjenetike me variante heterozigote në gjenet ARID1A, ARID1B, ARID2, DPF2, SMARCA4, SMARCB1, SMARCE1 ose SOX11. Mund të manifestohet me anomali somatike, shurdhim, keqformime urogjenitale, vonesë mendore, deficit të të folurit, agjenezë të korpusit kallosum, konvulsione, hypotoni, vonesë zhvillimi, skoliozë dhe infeksione te perseritshme.

Fjalët kyçe:

ARID1A, sindroma Coffin-Siris, rehabilitimi i sjelljes, rehabilitimi kognitiv, sëmundje e rrallë gjenetike

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References

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Botuar

2024-11-24

Si të citoni

Nikolla, L. (2024). Rehabilitimi në patologjitë e rralla. Sindroma coffin+siris. Optime, (1), 107–116. Retrieved from https://albanica.al/optime/article/view/5870

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