Publication

Clinical presentation and the presence of hearing impairment in branchio-oculo-facial syndrome: a new mutation in the TFAP2A gene

Thomeer, H. G. X. M., Crins, T. T. H., Kamsteeg, E. J., Buijsman, W., Cruysberg, J. R. M., Knoers, N. V. A. M. & Cremers, C. W. R. J., Dec-2010, In : Annals of Otology, Rhinology and Laryngology. 119, 12, p. 806-14 9 p.

Research output: Contribution to journalReview articleAcademicpeer-review

APA

Thomeer, H. G. X. M., Crins, T. T. H., Kamsteeg, E. J., Buijsman, W., Cruysberg, J. R. M., Knoers, N. V. A. M., & Cremers, C. W. R. J. (2010). Clinical presentation and the presence of hearing impairment in branchio-oculo-facial syndrome: a new mutation in the TFAP2A gene. Annals of Otology, Rhinology and Laryngology, 119(12), 806-14. https://doi.org/10.1177/000348941011901204

Author

Thomeer, Henricus G X M ; Crins, Tom T H ; Kamsteeg, Erik J ; Buijsman, Wendy ; Cruysberg, Johannes R M ; Knoers, Nine V A M ; Cremers, Cor W R J. / Clinical presentation and the presence of hearing impairment in branchio-oculo-facial syndrome : a new mutation in the TFAP2A gene. In: Annals of Otology, Rhinology and Laryngology. 2010 ; Vol. 119, No. 12. pp. 806-14.

Harvard

Thomeer, HGXM, Crins, TTH, Kamsteeg, EJ, Buijsman, W, Cruysberg, JRM, Knoers, NVAM & Cremers, CWRJ 2010, 'Clinical presentation and the presence of hearing impairment in branchio-oculo-facial syndrome: a new mutation in the TFAP2A gene' Annals of Otology, Rhinology and Laryngology, vol. 119, no. 12, pp. 806-14. https://doi.org/10.1177/000348941011901204

Standard

Clinical presentation and the presence of hearing impairment in branchio-oculo-facial syndrome : a new mutation in the TFAP2A gene. / Thomeer, Henricus G X M; Crins, Tom T H; Kamsteeg, Erik J; Buijsman, Wendy; Cruysberg, Johannes R M; Knoers, Nine V A M; Cremers, Cor W R J.

In: Annals of Otology, Rhinology and Laryngology, Vol. 119, No. 12, 12.2010, p. 806-14.

Research output: Contribution to journalReview articleAcademicpeer-review

Vancouver

Thomeer HGXM, Crins TTH, Kamsteeg EJ, Buijsman W, Cruysberg JRM, Knoers NVAM et al. Clinical presentation and the presence of hearing impairment in branchio-oculo-facial syndrome: a new mutation in the TFAP2A gene. Annals of Otology, Rhinology and Laryngology. 2010 Dec;119(12):806-14. https://doi.org/10.1177/000348941011901204


BibTeX

@article{9c78037b38ca46c6b7fb62b520dab114,
title = "Clinical presentation and the presence of hearing impairment in branchio-oculo-facial syndrome: a new mutation in the TFAP2A gene",
abstract = "We report on the clinical presentation of branchio-oculo-facial (BOF) syndrome in 2 patients with mutations in the TFAP2A gene (OMIM 107580). This TFAP2A gene was recently shown to be involved in the causation of BOF syndrome. An overview of the literature on BOF syndrome is given based on clinical reports written in the period during which mutation analysis was not yet available for BOF syndrome. We also give descriptions of the mutations in the TFAP2A gene in our 2 new patients with BOF syndrome. Congenital conductive hearing impairments are described, including hearing rehabilitation and the results of ear surgery.",
keywords = "Adolescent, Branchio-Oto-Renal Syndrome/complications, Child, Ear, External/abnormalities, Female, Hearing Loss, Conductive/complications, Humans, Male, Mutation, Sequence Analysis, DNA, Transcription Factor AP-2/genetics",
author = "Thomeer, {Henricus G X M} and Crins, {Tom T H} and Kamsteeg, {Erik J} and Wendy Buijsman and Cruysberg, {Johannes R M} and Knoers, {Nine V A M} and Cremers, {Cor W R J}",
year = "2010",
month = "12",
doi = "10.1177/000348941011901204",
language = "English",
volume = "119",
pages = "806--14",
journal = "Annals of Otology, Rhinology and Laryngology",
issn = "0003-4894",
number = "12",

}

RIS

TY - JOUR

T1 - Clinical presentation and the presence of hearing impairment in branchio-oculo-facial syndrome

T2 - a new mutation in the TFAP2A gene

AU - Thomeer, Henricus G X M

AU - Crins, Tom T H

AU - Kamsteeg, Erik J

AU - Buijsman, Wendy

AU - Cruysberg, Johannes R M

AU - Knoers, Nine V A M

AU - Cremers, Cor W R J

PY - 2010/12

Y1 - 2010/12

N2 - We report on the clinical presentation of branchio-oculo-facial (BOF) syndrome in 2 patients with mutations in the TFAP2A gene (OMIM 107580). This TFAP2A gene was recently shown to be involved in the causation of BOF syndrome. An overview of the literature on BOF syndrome is given based on clinical reports written in the period during which mutation analysis was not yet available for BOF syndrome. We also give descriptions of the mutations in the TFAP2A gene in our 2 new patients with BOF syndrome. Congenital conductive hearing impairments are described, including hearing rehabilitation and the results of ear surgery.

AB - We report on the clinical presentation of branchio-oculo-facial (BOF) syndrome in 2 patients with mutations in the TFAP2A gene (OMIM 107580). This TFAP2A gene was recently shown to be involved in the causation of BOF syndrome. An overview of the literature on BOF syndrome is given based on clinical reports written in the period during which mutation analysis was not yet available for BOF syndrome. We also give descriptions of the mutations in the TFAP2A gene in our 2 new patients with BOF syndrome. Congenital conductive hearing impairments are described, including hearing rehabilitation and the results of ear surgery.

KW - Adolescent

KW - Branchio-Oto-Renal Syndrome/complications

KW - Child

KW - Ear, External/abnormalities

KW - Female

KW - Hearing Loss, Conductive/complications

KW - Humans

KW - Male

KW - Mutation

KW - Sequence Analysis, DNA

KW - Transcription Factor AP-2/genetics

U2 - 10.1177/000348941011901204

DO - 10.1177/000348941011901204

M3 - Review article

VL - 119

SP - 806

EP - 814

JO - Annals of Otology, Rhinology and Laryngology

JF - Annals of Otology, Rhinology and Laryngology

SN - 0003-4894

IS - 12

ER -

ID: 92702887