Barber-Say syndrome and Ablepharon-Macrostomia syndrome: An overview-Reference-Cited by-同舟云学术

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Barber-Say syndrome and Ablepharon-Macrostomia syndrome: An overview

Published:2016-05-19 Issue:8 Volume:170 Page:1989-2001
ISSN:1552-4825
Container-title:American Journal of Medical Genetics Part A
language:en
Short-container-title:Am. J. Med. Genet.

Author:

De Maria Beatrice¹²,Mazzanti Laura²,Roche Nathalie³,Hennekam Raoul C.¹

Affiliation:

1. Department of Pediatrics and Translational Genetics; Academic Medical Center; University of Amsterdam; Amsterdam The Netherlands

2. Department of Pediatrics; S. Orsola-Malpighi Hospital; Bologna Italy

3. Department of Plastic and Reconstructive Surgery; University Hospital; Ghent Belgium

Publisher

Wiley

Subject

Genetics (clinical),Genetics

Reference45 articles.

1. Intermediate form of ablepharon-macrostomia syndrome with CNS abnormalities;Amor;Am J Med Genet,2001

2. Macrostomia, ectropion, atrophic skin, hypertrichosis and growth retardation;Barber;Syndr Ident,1982

3. Ablepharon macrostomia syndrome in a 46-year-old woman;Brancati;Am J Med Genet,2004

4. Fraser and ablepharon macrostomia phenotypes: Concurrence in one family and association with mutated FRAS1;Cavalcanti;Am J Med Genet,2007

5. Setleis syndrome in Mexican-Nahua sibs due to a homozygous TWIST2 frameshift mutation and partial expression in heterozygotes: Review of the focal facial dermal dysplasias and subtype reclassification;Cervantes-Barragan;J Med Genet,2011

Cited by 27 articles. 订阅此论文施引文献订阅此论文施引文献，注册后可以免费订阅5篇论文的施引文献，订阅后可以查看论文全部施引文献

1. Ablepharon Mmacrostomia Syndrome (AMS);Genetic Syndromes;2024

2. Multiple rhabdomyomatous mesenchymal hamartomas in a patient with mosaic Barber–Say syndrome;Pediatric Dermatology;2023-10-10

3. Approach to inherited hypertrichosis: A brief review;Indian Journal of Dermatology, Venereology and Leprology;2021-07-29

4. Ocular adnexal phenotype and management of a patient with mosaic expression of a mutation in TWIST2;Orbit;2021-06-07

5. Expression Profiling Identifies TWIST2 Target Genes in Setleis Syndrome Patient Fibroblast and Lymphoblast Cells;International Journal of Environmental Research and Public Health;2021-02-19

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