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Transmission of Barber–Say syndrome from a mosaic father to his child in an Indian family

  • Published:2016-10 Issue:4 Volume:25 Page:181-185
  • ISSN:0962-8827
  • Container-title:Clinical Dysmorphology
  • language:en
  • Short-container-title:

Author:

Singh Ankur,Schanze Denny,Agarwal Neha,Prasad Rajniti,Mishra Om Prakash,Singh Royana,Kapoor Seema,Zenker Martin

Publisher

Ovid Technologies (Wolters Kluwer Health)

Subject

Genetics(clinical),General Medicine,Pathology and Forensic Medicine,Anatomy,Pediatrics, Perinatology, and Child Health

Reference11 articles.

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

2. Lid agenesis-macrostomia-psychomotor retardation-forehead hypertrichosis – a new syndrome?;Cesarino;Am J Med Genet,1988

3. Autosomal dominant inheritance of Barber–Say syndrome;Dinulos;Am J Med Genet,1999

4. Tongue tie;Hall;Arch Dis Child,2005

5. Recurrent mutations in the basic domain of TWIST2 cause ablepharon macrostomia and Barber–Say syndromes;Marchegiani;Am J Hum Genet,2015

Cited by 10 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. Ocular adnexal phenotype and management of a patient with mosaic expression of a mutation in TWIST2;Orbit;2021-06-07

2. Congenital Soft Tissue Deformities;Smith and Nesi’s Ophthalmic Plastic and Reconstructive Surgery;2020-08-05

3. Multidisciplinary eyelid reconstruction in Barber-Say syndrome: A case report;Archivos de la Sociedad Española de Oftalmología (English Edition);2019-04

4. Reconstrucción palpebral multidisciplinar en el síndrome de Barber-Say: a propósito de un caso;Archivos de la Sociedad Española de Oftalmología;2019-04

5. Barber Say Syndrome (A new case report);Indian Dermatology Online Journal;2019
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