Genotype-phenotype associations in microtia: a systematic review.

ABSTRACT:

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 to search all known literature on the genetic and phenotypic variables associated with the development or outcome of microtia. The identified publications were screened and selected based on inclusion and exclusion criteria and assessed for methodological quality using the Joanna Briggs Institute (JBI) critical appraisal tools. We found 40 papers in this systematic re

SUBMITTER: Wahdini SI 

PROVIDER: S-EPMC11003020 | biostudies-literature | 2024 Apr

REPOSITORIES: biostudies-literature