It's all in their eyes: a three-generation family with branchio-oculo-facial Syndrome (BOFS) reveals a heterozygous novel mutation in TFAP2A gene

被引：0
|
作者：
Valdes-Socin, Hernan [1 ]
Andris, Cecile [1 ]
Crommen, C. [1 ]
Milet, Ariane [1 ]
Maquet, Julie [1 ]
Petrossians, Patrick [1 ]
Bours, Vincent [1 ]
Debray, Francois Guillaume [1 ]
机构：
[1] CHU Liege, Liege, Belgium
来源：
ACTA CLINICA BELGICA | 2021年 / 76卷
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D O I：
暂无
中图分类号：
R5 [内科学];
学科分类号：
1002 ; 100201 ;
摘要：
20
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页码：27 / 28
页数：2
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  • [1] Novel TFAP2A mutation in a Japanese family with Branchio-oculo-facial syndrome
    Sato T.
    Samura O.
    Kato N.
    Taniguchi K.
    Takahashi K.
    Ito Y.
    Aoki H.
    Kobayashi M.
    Migita O.
    Okamoto A.
    Hata K.
    [J]. Human Genome Variation, 5 (1)
  • [2] BRANCHIO-OCULO-FACIAL SYNDROME IN A NEWBORN CAUSED BY A NOVEL TFAP2A MUTATION
    Gunes, N.
    Cengiz, F. B.
    Duman, D.
    Dervisoglu, S.
    Tekin, M.
    Tuysuz, B.
    [J]. GENETIC COUNSELING, 2014, 25 (01): : 41 - 47
  • [3] A family with branchio-oculo-facial syndrome with primarily ocular involvement associated with mutation of the TFAP2A gene
    Dumitrescu, Alina V.
    Milunsky, Jeff M.
    Longmuir, Susannah Q.
    Drack, Arlene V.
    [J]. OPHTHALMIC GENETICS, 2012, 33 (02) : 100 - 106
  • [4] Confirmation of TFAP2A Gene Involvement in Branchio-Oculo-Facial Syndrome (BOFS) and Report of Temporal Bone Anomalies
    Stoetzel, C.
    Riehm, S.
    Greene, V. Bennouna
    Pelletier, V.
    Vigneron, J.
    Leheup, B.
    Marion, V.
    Helle, S.
    Danse, J. M.
    Thibault, C.
    Moulinier, L.
    Veillon, F.
    Dollfus, H.
    [J]. AMERICAN JOURNAL OF MEDICAL GENETICS PART A, 2009, 149A (10) : 2141 - 2146
  • [5] TFAP2A mutations result in branchio-oculo-facial syndrome
    Milunsky, Jeff M.
    Maher, Tom A.
    Zhao, Geping
    Roberts, Amy E.
    Stalkers, Heather J.
    Zori, Roberto T.
    Burch, Michelle N.
    Clemens, Michele
    Mulliken, John B.
    Smith, Rosemarie
    Lin, Angela E.
    [J]. AMERICAN JOURNAL OF HUMAN GENETICS, 2008, 82 (05) : 1171 - 1177
  • [6] A novel TFAP2A mutation in familial Branchio-Oculo-Facial Syndrome with predominant ocular phenotype
    Aliferis, Konstantinos
    Stoetzel, Corinne
    Pelletier, Valerie
    Helle, Sophie
    Angioi-Duprez, Karine
    Vigneron, Jacqueline
    Leheup, Bruno
    Marion, Vincent
    Dollfus, Helene
    [J]. OPHTHALMIC GENETICS, 2011, 32 (04) : 250 - 255
  • [7] A Heterozygous Novel Mutation in TFAP2A Gene Causes Atypical Branchio-Oculo-Facial Syndrome With Isolated Coloboma of Choroid: A Case Report
    Min, Jie
    Mao, Bing
    Wang, Yong
    He, Xuelian
    Gao, Shuyang
    Wang, Hairong
    [J]. FRONTIERS IN PEDIATRICS, 2020, 8
  • [8] 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.
    [J]. ANNALS OF OTOLOGY RHINOLOGY AND LARYNGOLOGY, 2010, 119 (12): : 806 - 814
  • [9] Additional Clinical and Molecular Analyses of TFAP2A in Patients With the Branchio-Oculo-Facial Syndrome
    Reiber, Judith
    Sznajer, Yves
    Posteguillo, Elena Guillen
    Mueller, Dietmar
    Lyonnet, Stanislas
    Baumann, Clarisse
    Just, Walter
    [J]. AMERICAN JOURNAL OF MEDICAL GENETICS PART A, 2010, 152A (04) : 994 - 999
  • [10] TFAP2A Mutations Result in Branchio-Oculo-Facial Syndrome (vol 82, pg 1171, 2008)
    Milunsky, Jeff M.
    Maher, Tom A.
    Zhao, Geping
    Roberts, Amy E.
    Stalker, Heather J.
    Zori, Roberto T.
    Burch, Michelle N.
    Clemens, Michele
    Mulliken, John B.
    Smith, Rosemarie
    Lin, Angela E.
    [J]. AMERICAN JOURNAL OF HUMAN GENETICS, 2009, 84 (02) : 301 - 301
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