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Updated: Jun 28, 2025

In Vivo Functional Study of Disease-associated Rare Human Variants Using Drosophila
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Genotype-phenotype associations in microtia: a systematic review

Siti Isya Wahdini1, Fina Idamatussilmi1, Rachmaniar Pramanasari2

  • 1Plastic Reconstructive and Aesthetic Surgery Division, Department of Surgery, Faculty of Medicine, Public Health and Nursing, Universitas Gadjah Mada /Dr. Sardjito Hospital, Yogyakarta, Indonesia.

Orphanet Journal of Rare Diseases
|April 9, 2024
PubMed
Summary

This systematic review identifies key genes like TCOF1 and GSC involved in microtia development and associated head and neck abnormalities. Findings reveal a genotype-phenotype association, highlighting the genetic basis of this congenital ear malformation.

Keywords:
CDT1FANCBGSC exon 2GSC exon 3HOXA2HSPA9MARSSIX2TCOF1Genotype- phenotype associationMicrotiaNon-syndromicSyndromic

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