Application of whole exon sequencing in genetic diagnosis of patients with ear deformity syndrome

Application of exon sequencing in genetic diagnosis of patients with ear deformity syndrome

Status

Active, not recruiting

Phases

Early Phase 1

Study type

Observational

Source

ChiCTR

Registry ID

ChiCTR2000037405

Enrollment

Unknown

Registered

2020-08-28

Start date

2022-11-01

Completion date

Unknown

Last updated

2020-10-13

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

Conditions

Congenital microtia

Interventions

Gold Standard:Clinical diagnosis + Sanger sequencing

Index test:Whole&#32

Exome&#32

Sequencing

Eligibility

Sex/Gender

All

Inclusion criteria

Inclusion criteria: 1) Unilateral or bilateral auricle malformations, combined with ear canal stenosis or atresia; 2) combined with congenital diseases or dysfunction of craniofacial, heart, kidney, bone and other single or multiple parts or systems

Exclusion criteria

Exclusion criteria: Carry a known mutation

Design outcomes

Primary

Measure	Time frame
mutation rate;	—

Countries

China

Contacts

Public ContactYing Chen

Eye & ENT Hospital of Fudan University

chenyingishere@163.com+86 18917785740

Outcome results

None listed

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