Article
Genotype-phenotype associations in microtia: a systematic review.
Orphanet journal of rare diseases - 9 Apr 2024
Wahdini Siti Isya, Idamatussilmi Fina, Pramanasari Rachmaniar, Prawoto Almas Nur, Wungu Citrawati Dyah Kencono, Putri Indri Lakhsmi, Gunadi
Abstract excerpt
BACKGROUND: Microtia is a congenital ear malformation that can occur as isolated microtia or as part of a syndrome. The etiology is currently poorly understood, although there is strong evidence that genetics has a role in the occurrence of microtia. This systematic review aimed to determine the genes involved and the abnormalities in microtia patients' head and neck regions. METHODS: We used seven search engines...
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