Traboulsi syndrome without features of Marfan syndrome caused by a novel homozygous <i>ASPH</i> variant associated with a heterozygous <i>FBN1</i> variant-Reference-Cited by-同舟云学术

Traboulsi syndrome without features of Marfan syndrome caused by a novel homozygous ASPH variant associated with a heterozygous FBN1 variant

Published:2023-05-03 Issue:4 Volume:44 Page:366-370
ISSN:1381-6810
Container-title:Ophthalmic Genetics
language:en
Short-container-title:Ophthalmic Genetics

Author:

Lima Felipe L.¹,Cronemberger Sebastião¹,Albuquerque Anna L. B.²,Barbosa Luciana F.¹,Cunha Francine R.¹,Veloso Artur W.¹,Diniz-Filho Alberto¹,Friedman Eitan³,De Marco luiz²^ORCID

Affiliation:

1. Glaucoma Service Professor Nassim Calixto, Hospital São Geraldo, Universidade Federal de Minas Gerais, Belo Horizonte, Brazil

2. Department of Surgery, Universidade Federal de Minas Gerais, Belo Horizonte, Brazil

3. The Preventive Personalized Medicine Center, Assuta Medical Center and the Sackler School of Medicine, Tel-Aviv University, Tel-Aviv, Israel

Funder

Conselho Nacional de Desenvolvimento Científico e Tecnológico

Publisher

Informa UK Limited

Subject

Genetics (clinical),Ophthalmology,Pediatrics, Perinatology and Child Health

Link

https://www.tandfonline.com/doi/pdf/10.1080/13816810.2023.2206888

Reference29 articles.

1. A family with a syndrome of ectopia lentis, spontaneous filtering blebs, and craniofacial dysmorphism

2. Anterior Segment Imaging and Treatment of a Case with Syndrome of Ectopia Lentis, Spontaneous Filtering Blebs, and Craniofacial Dysmorphism

3. Molecular pathogenesis and management strategies of ectopia lentis

4. Mutations in ASPH Cause Facial Dysmorphism, Lens Dislocation, Anterior-Segment Abnormalities, and Spontaneous Filtering Blebs, or Traboulsi Syndrome

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