Identification of a second HOXA2 nonsense mutation in a family with autosomal dominant non‐syndromic microtia and distinctive ear morphology

F Piceci, S Morlino, M Castori, E Buffone… - Clinical …, 2017 - Wiley Online Library
Microtia is a congenital defect affecting external ears, which appear smaller and sometimes
malformed. Here we describe a five‐generation family with isolated bilateral microtia …

HOXA2 Haploinsufficiency in Dominant Bilateral Microtia and Hearing Loss

KK Brown, LM Viana, CC Helwig… - Human …, 2013 - Wiley Online Library
Microtia is a rare, congenital malformation of the external ear that in some cases has a
genetic etiology. We ascertained a three‐generation family with bilateral microtia and …

A mutation in HOXA2 is responsible for autosomal-recessive microtia in an Iranian family

F Alasti, A Sadeghi, MH Sanati, M Farhadi… - The American Journal of …, 2008 - cell.com
Microtia, a congenital deformity manifesting as an abnormally shaped or absent external
ear, occurs in one out of 8,000–10,000 births. We ascertained a consanguineous Iranian …

Identification of loss-of-function HOXA2 mutations in Chinese families with dominant bilateral microtia

N Si, X Meng, X Lu, X Zhao, C Li, M Yang, Y Zhang… - Gene, 2020 - Elsevier
HOX genes are important regulatory genes patterning head formation, including
development of the ear. Microtia is a congenital ear anomaly characterized by lacking all or …

Mutational analysis of HOXA2 and SIX2 in a Bronx population with isolated microtia

DC Monks, A Jahangir, AL Shanske, J Samanich… - International journal of …, 2010 - Elsevier
OBJECTIVE: Microtia is a developmental malformation of the external ear with genetic and
environmental causes. The prevalence of microtia varies but several studies suggest …

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 …

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 …

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 …

Mutational analysis of GSC, HOXA2 and PRKRA in 106 Chinese patients with microtia

S Hao, L Jin, C Li, H Wang, F Zheng, D Ma… - International Journal of …, 2017 - Elsevier
Objective Microtia is defined as a developmental malformation characterized by a small,
abnormal shaped auricle, with atresia or stenosis of the auditory canal. Genes responsible …

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 …