Genotype-phenotype associations in microtia: a systematic review.

Siti Isya WahdiniFina IdamatussilmiRachmaniar PramanasariAlmas Nur PrawotoCitrawati Dyah Kencono WunguIndri Lakhsmi Putri. Gunadi

Published in: Orphanet journal of rare diseases (2024)

Our systematic review shows some genes involved in the microtia development, including TCOF1, SIX2, HSPA9, GSC exon 2, FANCB, HOXA2, GSC exon 3, MARS1, and CDT1 genes. We also reveal a genotype-phenotype association in microtia. In addition, further studies with more complete and comprehensive data are needed, including patients with complete data on syndromes, phenotypes, and genotypes.

Keyphrases

systematic review
electronic health record
genome wide
big data
randomized controlled trial
data analysis
machine learning
dna methylation
long noncoding rna
transcription factor
artificial intelligence
bioinformatics analysis
genome wide identification
genome wide analysis