A Clinical and Molecular Analysis of Branchio-Oculo-Facial Syndrome Patients in Russia Revealed New Mutations inTFAP2A-Reference-Cited by-同舟云学术

A Clinical and Molecular Analysis of Branchio-Oculo-Facial Syndrome Patients in Russia Revealed New Mutations inTFAP2A

Published:2015-01-15 Issue:2 Volume:79 Page:148-152
ISSN:0003-4800
Container-title:Annals of Human Genetics
language:en
Short-container-title:Annals of Human Genetics

Author:

Meshcheryakova Tatiana I.¹,Zinchenko Rena A.¹²³,Vasilyeva Tatiana A.³,Marakhonov Andrey V.³,Zhylina Svetlana S.¹²,Petrova Nika V.³,Kozhanova Tatiana V.¹,Belenikin Maxim S.¹²,Petrin Alexander N.¹²⁴,Mutovin Gennady R.¹²

Affiliation:

1. Scientific and Practical Centre of Medical Care for Children; Aviatorov Str., 38 Moscow 119620 Russian Federation

2. Pirogov Russian National Research Medical University; Ostrovitianova Str., 1 Moscow 117997 Russian Federation

3. Research Centre for Medical Genetics; Russian Academy of Medical Sciences; Moskvorechie Str., 1 Moscow 115478 Russian Federation

4. Moscow State University of Medicine and Dentistry; Delegatskaya Str., 20 bld. 1 Moscow 127473 Russian Federation

Publisher

Wiley

Subject

Genetics(clinical),Genetics

Link

http://onlinelibrary.wiley.com/wol1/doi/10.1111/ahg.12098/fullpdf

Reference12 articles.

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2. New autosomal dominant branchio-oculo-facial syndrome;Fujimoto;Am J Med Genet,1987

3. Reduced TFAP2A function causes variable optic fissure closure and retinal defects and sensitizes eye development to mutations in other morphogenetic regulators;Gestri;Hum Genet,2009

4. Brief clinical report: a new syndrome of hemangiomatous branchial clefts, lip pseudoclefts, and unusual facial appearance;Hall;Am J Med Genet,1983

5. Bilateral branchial cleft sinuses associated with intrauterine and postnatal growth retardation, premature aging, and unusual facial appearance: a new syndrome with dominant transmission;Lee;Am J Med Genet,1982

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1. A neonatal case report of branchiooculofacial syndrome caused by a novel mutation in the TFAP2A gene and literature review;Medicine;2023-11-03

2. Structural basis for specific DNA sequence motif recognition by the TFAP2 transcription factors;Nucleic Acids Research;2023-07-06

3. A New Case and Comprehensive Review of the Ophthalmic Manifestations of 172 Individuals With Branchio-Oculo-Facial Syndrome;Journal of Pediatric Ophthalmology & Strabismus;2022-10-20

4. Unravelling the genetic causes of multiple malformation syndromes: A whole exome sequencing study of the Cypriot population;PLOS ONE;2021-07-29

5. A Heterozygous Novel Mutation in TFAP2A Gene Causes Atypical Branchio-Oculo-Facial Syndrome With Isolated Coloboma of Choroid: A Case Report;Frontiers in Pediatrics;2020-07-17