Barber-say syndrome: a confirmed case of TWIST2 gene mutation
Author:
Affiliation:
1. Dayton Children's Hospital; One Children's Plaza Dayton OH USA
2. Pediatrix Medical Group of Ohio; One Children's Plaza Dayton OH USA
Publisher
Wiley
Subject
General Medicine
Reference15 articles.
1. Barber-Say syndrome in a father and daughter;Roche;American Journal of Medical Genetics,2010
2. Autosomal dominant inheritance of Barber-Say syndrome;Dinulos;American Journal of Medical Genetics,1999
3. Macrostomia, ectropion, atrophic skin, hypertrichosis and growth retardation;Barber;Syndrome Identification,1982
4. Microcephaly, short stature, and developmental delay associated with chemotactic defect and transient hypogammaglobulinemia in two brothers;Say;Journal of Medical Genetics,1986
5. Macrostomia, hypertelorism, atrophic skin, severe hypertrichosis without ectropion: milder foam of Barber-Say syndrome;Sod;American Journal of Medical Genetics,1997
Cited by 4 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. Skin and Lacrimal Drainage System;Ocular Pathology;2025
2. Multiple rhabdomyomatous mesenchymal hamartomas in a patient with mosaic Barber–Say syndrome;Pediatric Dermatology;2023-10-10
3. Skin and Lacrimal Drainage System;Ocular Pathology;2020
4. Barber Say Syndrome (A new case report);Indian Dermatology Online Journal;2019
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