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Functional validation of a newly discovered double heterozygous mutation of CTC1 gene

Functional validation of a newly discovered double heterozygous mutation of CTC1 gene

Status
Recruiting
Phases
Unknown
Study type
Observational
Source
ChiCTR
Registry ID
ChiCTR2200056176
Enrollment
Unknown
Registered
2022-02-01
Start date
2022-01-31
Completion date
Unknown
Last updated
2024-08-12

For informational purposes only — not medical advice. Sourced from public registries and may not reflect the latest updates. Terms

Conditions

Congenital dyskeratosis

Interventions

case series:Nil

Sponsors

Sun Yat-sen Memorial Hospital, Sun Yat-sen University
Lead Sponsor

Eligibility

Sex/Gender
All
Age
1 Years to 40 Years

Inclusion criteria

Inclusion criteria: Patients and two parents were enrolled for blood cell studies

Exclusion criteria

Exclusion criteria: None

Design outcomes

Primary

MeasureTime frame
Telomere length;—

Countries

China

Contacts

Public ContactXinyu Li

Sun Yat-sen Memorial Hospital, Sun Yat-sen University

lixy228@mail.sysu.edu.cn+86 15914388992

Outcome results

None listed

Source: ChiCTR (via WHO ICTRP) · Data processed: Feb 4, 2026