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

Autor:	Felipe L. Lima, Sebastião Cronemberger, Anna L. B. Albuquerque, Luciana F. Barbosa, Francine R. Cunha, Artur W. Veloso, Alberto Diniz-Filho, Eitan Friedman, luiz De Marco
Rok vydání:	2023
Předmět:	Ophthalmology Pediatrics Perinatology and Child Health Genetics (clinical)
Zdroj:	Ophthalmic Genetics. :1-5
ISSN:	1744-5094 1381-6810
DOI:	10.1080/13816810.2023.2206888
Databáze:	OpenAIRE
Externí odkaz:	https://explore.openaire.eu/search/publication?articleId=doi_________::358f2ae5b718087f4a4b8dce82605d01 https://doi.org/10.1080/13816810.2023.2206888 Zobrazit plný text záznamu