What question did this study set out to answer?

To review the clinical and genetic aspects of TBC1D24 mutations and their associated syndromes.

TBC1D24 mutations- opening the DOORS to the associated syndromes

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Systematic review summarizes TBC1D24 mutation implications in various genetic disorders, indicating its significance.

To review the clinical and genetic aspects of TBC1D24 mutations and their associated syndromes.
Conducted a systematic literature review via PubMed and Google Scholar.
Utilized keywords related to TBC1D24 and associated syndromes.
Focused on clinical manifestations and pathophysiology of the mutations.
Identified various disorders linked to TBC1D24 mutations, including DOORS syndrome.
Highlighted the increase in reported cases and importance in developmental diseases.
Described key symptoms and potential treatment approaches for affected individuals.

Szada-Borzyszkowski et al. (2026) studied this question.

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View Full Paper

Ask AI

Bookmark

Authors

Systematic review summarizes TBC1D24 mutation implications in various genetic disorders, indicating its significance.

To review the clinical and genetic aspects of TBC1D24 mutations and their associated syndromes.
Conducted a systematic literature review via PubMed and Google Scholar.
Utilized keywords related to TBC1D24 and associated syndromes.
Focused on clinical manifestations and pathophysiology of the mutations.
Identified various disorders linked to TBC1D24 mutations, including DOORS syndrome.
Highlighted the increase in reported cases and importance in developmental diseases.
Described key symptoms and potential treatment approaches for affected individuals.

Szada-Borzyszkowski et al. (2026) studied this question.

View Full Paper

Ask AI

Bookmark