SIX6-related anophthalmia/microphthalmia: second report on a deletion in a consanguineous family-Reference-Cited by-同舟云学术

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

Published:2020-10-28 Issue:1 Volume:42 Page:88-91
ISSN:1381-6810
Container-title:Ophthalmic Genetics
language:en
Short-container-title:Ophthalmic Genetics

Author:

Deepthi Asha¹,Fakhoury Omar²,Daher Mohamad³,Gambarini Alicia⁴,El-Hayek Stephany¹,Megarbane André⁴⁵⁶^ORCID

Affiliation:

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

Publisher

Informa UK Limited

Subject

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

Link

https://www.tandfonline.com/doi/pdf/10.1080/13816810.2020.1836660

Reference12 articles.

1. The sine oculis homeobox (SIX) family of transcription factors as regulators of development and disease

2. Genomic Cloning and Characterization of the Human Homeobox Gene SIX6 Reveals a Cluster of SIX Genes in Chromosome 14 and Associates SIX6 Hemizygosity with Bilateral Anophthalmia and Pituitary Anomalies

3. Homozygous truncation of SIX6 causes complex microphthalmia in humans

4. A homozygousSIX6mutation is associated with optic disc anomalies and macular atrophy and reduces retinal ganglion cell differentiation

5. Deletion at 14q22-23 indicates a contiguous gene syndrome comprising anophthalmia, pituitary hypoplasia, and ear anomalies

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