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 …

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 …

Genetic advances in the understanding of microtia

C Gendron, A Schwentker… - Journal of pediatric …, 2016 - thieme-connect.com
Microtia is a genetic condition affecting the external ears and presents clinically along a
wide spectrum: minimally affected ears are small with minor shape abnormalities; extremely …

Genetics of microtia and associated syndromes

F Alasti, G Van Camp - Journal of medical genetics, 2009 - jmg.bmj.com
Microtia is a congenital anomaly, characterised by a small, abnormally shaped auricle
(pinna). It is usually accompanied by a narrow, blocked or absent ear canal. Microtia can …

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 …

The role of genetic factors in microtia: A systematic review

I Indri Lakhsmi Putri, A Stephanie, R Pramanasari… - F1000 … - repository.unair.ac.id
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 …

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 …

Unilateral microtia found in association with a de-novo 20q13. 33 deletion, is there a causal link?

S Quinn, K Kavanagh, L McArdle, D Betts… - Clinical …, 2023 - journals.lww.com
Microtia is a congenital anomaly of the ear that can range from mild structural abnormalities
to complete absence of the ear. Causes of microtia are variable and include isolated defects …

Autosomal dominant microtia

SC Elalaoui, IC Jaouad, L Rifai, A Sefiani - European Journal of Medical …, 2010 - Elsevier
Microtia (MIM600674) is a congenital malformation which occurs in 1/8000–10000 births. It
is characterized by a small, and abnormally shaped pinna. It ranges in severity from a bump …

[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 …