Genome-wide linkage study suggests a susceptibility locus for isolated bilateral microtia on 4p15. 32–4p16. 2

X Li, J Hu, J Zhang, Q Jin, DM Wang, J Yu, Q Zhang… - PLoS …, 2014 - journals.plos.org
Microtia is a congenital deformity where the external ear is underdeveloped. Genetic
investigations have identified many susceptibility genes of microtia-related syndromes …

Genotype-phenotype associations in microtia: a systematic review

SI Wahdini, F Idamatussilmi, R Pramanasari… - Orphanet Journal of …, 2024 - Springer
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 …

[引用][C] Mutational analysis of PACT gene in Chinese patients with microtia

L Lin, B Pan, H Jiang, H Zhuang, Y Zhao… - American Journal of …, 2011 - Wiley Online Library
Microtia is a congential defect of the ear that occurs from 0.76 to 4.34 per 10,000 births
according to several large multinational registries of congenital malformations [Mastroiacovo …

Inheritance analysis and family history for microtia: A hospital-based study in China

Y Zhang, C Wang, M Yang, B Pan - International Journal of Pediatric …, 2023 - Elsevier
Objectives Microtia is a congenital anomaly of the outer ear. Although genetic and
environmental factors could play a role, no consensus has been established on the …

Duplications involving the long range HMX1 enhancer are associated with human isolated bilateral concha-type microtia

N Si, X Meng, X Lu, Z Liu, Z Qi, L Wang, C Li… - Journal of Translational …, 2020 - Springer
Background Microtia is a congenital anomaly of ear that ranges in severity from mild
structural abnormalities to complete absence of the outer ears. Concha-type microtia is …

[HTML][HTML] Target sequencing of 307 deafness genes identifies candidate genes implicated in microtia

P Wang, X Fan, Y Wang, Y Fan, Y Liu, S Zhang… - Oncotarget, 2017 - ncbi.nlm.nih.gov
Microtia is a congenital malformation of the external ear caused by genetic and/or
environmental factors. However, no causal genetic mutations have been identified in …

The role of genetic factors in microtia: A systematic review

IL Putri, A Stephanie, R Pramanasari, M Kon… - …, 2023 - f1000research.com
Background: Microtia is a congenital malformation of the outer ears caused by improper
embryonic development. The origin of microtia and causes of its variations remain unknown …

Whole-genome sequencing identifies two novel rare mutations in BMP5 and BMP2 in monozygotic twins with microtia

W Liu, Q Wang, Y Guo, L Lin, Q Yang… - Journal of Craniofacial …, 2022 - journals.lww.com
Microtia is a rare congenital anomaly of the ear; it is regulated by both genetic and
environmental factors. However, the mechanisms underlying its pathogenesis are unknown …

Microtia: epidemiology and genetics

DV Luquetti, CL Heike, AV Hing… - American Journal of …, 2012 - Wiley Online Library
Microtia is a congenital anomaly of the ear that ranges in severity from mild structural
abnormalities to complete absence of the ear, and can occur as an isolated birth defect or as …

Genetics and Epigenetics in the Genesis and Development of Microtia

X Chen, J Ma, T Zhang - Journal of Craniofacial Surgery, 2024 - journals.lww.com
Microtia is a congenital malformation of the external and middle ear associated with varying
degrees of severity that range from mild structural abnormalities to the absence of the …