HOXA2 haploinsufficiency in dominant bilateral microtia and hearing loss

scientific article

HOXA2 haploinsufficiency in dominant bilateral microtia and hearing loss is …
instance of (P31):
scholarly articleQ13442814

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P356DOI10.1002/HUMU.22367
P932PMC publication ID3883620
P698PubMed publication ID23775976
P5875ResearchGate publication ID239942129

P50authorChristine E. SeidmanQ30123970
Steven R DePalmaQ57036097
Jonathan G SeidmanQ88295024
Barbara McDonoughQ91185919
Maria A ArtunduagaQ114417699
Patricia JarrinQ114417700
P2093author name stringLourdes Quintanilla-Dieck
Kerry K Brown
Lucas M Viana
Roland D Eavey
Gabriel Osorno
Cecilia C Helwig
P2860cites workA human homologue of the Drosophila eyes absent gene underlies branchio-oto-renal (BOR) syndrome and identifies a novel gene familyQ24318377
A mutation in HOXA2 is responsible for autosomal-recessive microtia in an Iranian family.Q24655621
Homozygous mutations in fibroblast growth factor 3 are associated with a new form of syndromic deafness characterized by inner ear agenesis, microtia, and microdontiaQ24680303
Transcription factor SIX5 is mutated in patients with branchio-oto-renal syndromeQ24682920
Positional cloning of a gene involved in the pathogenesis of Treacher Collins syndrome. The Treacher Collins Syndrome Collaborative GroupQ28273395
Hoxa-2 mutant mice exhibit homeotic transformation of skeletal elements derived from cranial neural crestQ28506270
A homeotic transformation is generated in the rostral branchial region of the head by disruption of Hoxa-2, which acts as a selector geneQ28593109
A framework for variation discovery and genotyping using next-generation DNA sequencing dataQ29547262
Mutation in the human homeobox gene NKX5-3 causes an oculo-auricular syndromeQ30490281
Filter-based hybridization capture of subgenomes enables resequencing and copy-number detectionQ33471359
Epidemiology and genetics of microtia-anotia: a registry based study on over one million birthsQ33676807
Truncations of titin causing dilated cardiomyopathy.Q34254460
Environmental and genetic factors associated with congenital microtia: a case-control study in Jiangsu, China, 2004 to 2007.Q43236451
Microtia in Finland: comparison of characteristics in different populationsQ46146960
Different levels of Hoxa2 are required for particular developmental processesQ48770861
Epidemiologic features and clinical subgroups of anotia/microtia in Texas.Q51809993
Homeotic transformation of branchial arch identity after Hoxa2 overexpression.Q52162911
Microtia: epidemiology and genetics.Q52618600
P433issue10
P921main subjecthaploinsufficiencyQ852654
microtiaQ1759560
hearing lossQ16035842
P304page(s)1347-1351
P577publication date2013-07-11
P1433published inHuman MutationQ5937269
P1476titleHOXA2 haploinsufficiency in dominant bilateral microtia and hearing loss
P478volume34

Reverse relations

cites work (P2860)
Q30357260Cellular and Molecular Underpinnings of Neuronal Assembly in the Central Auditory System during Mouse Development.
Q60045886Correlation Between the Sites of Onset of Basal Cell Carcinoma and the Embryonic Fusion Planes in the Auricle
Q37739741Exome Sequence Analysis of 14 Families With High Myopia.
Q46577655Genome-wide association scan suggests basis for microtia in Awassi sheep
Q33830886Genome-wide linkage study suggests a susceptibility locus for isolated bilateral microtia on 4p15.32-4p16.2.
Q50348895Identification of a second HOXA2 nonsense mutation in a family with autosomal dominant non-syndromic microtia and distinctive ear morphology
Q61443178Identification of sequence variants associated with severe microtia-astresia by targeted sequencing
Q62937932Neural crest contributions to the ear: Implications for congenital hearing disorders
Q42092395Target sequencing of 307 deafness genes identifies candidate genes implicated in microtia
Q38557964The development of the mammalian outer and middle ear.
Q30405659The genetics of auricular development and malformation: new findings in model systems driving future directions for microtia research
Q100566056Uncovering the Secreted Signals and Transcription Factors Regulating the Development of Mammalian Middle Ear Ossicles