SIX6-related anophthalmia/microphthalmia: second report on a deletion in a consanguineous family

Ophthalmic Genet. 2021 Feb;42(1):88-91. doi: 10.1080/13816810.2020.1836660. Epub 2020 Oct 28.

Authors

Asha Deepthi¹, Omar Fakhoury², Mohamad Daher³, Alicia Gambarini⁴, Stephany El-Hayek¹, André Megarbane^{4

5

6}

Affiliations

¹ Centre for Arab Genomic Studies , Dubai, United Arab Emirates.
² Saint George Hospital , Beirut, Lebanon.
³ Faculty of Medicine, Saint Joseph University , Beirut, Lebanon.
⁴ Institut Jérôme Lejeune , Paris, France.
⁵ School of Medicine, Lebanese University , Beirut, Lebanon.
⁶ Department of Human Genetics, Gilbert and Rose-Marie Ghagoury School of Medicine, Lebanese American University , Byblos, Lebanon.

PMID: 33108933
DOI: 10.1080/13816810.2020.1836660

No abstract available

Publication types

Case Reports

MeSH terms

Anophthalmos / genetics
Anophthalmos / pathology*
Child
Consanguinity*
Gene Deletion
Homeodomain Proteins / genetics*
Humans
Male
Microphthalmos / genetics
Microphthalmos / pathology*
Prognosis
Trans-Activators / genetics*

Substances

Homeodomain Proteins
SIX6 protein, human
Trans-Activators