Absent meibomian glands and cone dystrophy in ADULT syndrome: identification by whole exome sequencing of pathogenic variants in two causal genes <i>TP63</i> and <i>CNGB3</i>-Reference-Cited by-同舟云学术

Absent meibomian glands and cone dystrophy in ADULT syndrome: identification by whole exome sequencing of pathogenic variants in two causal genes TP63 and CNGB3

Published:2023-05-09 Issue:1 Volume:45 Page:84-94
ISSN:1381-6810
Container-title:Ophthalmic Genetics
language:en
Short-container-title:Ophthalmic Genetics

Author:

Hizem Syrine¹²³^ORCID,Maamouri Rym³⁴,Zaouak Anissa³⁵,Rejeb Imen¹⁶,Karoui Sana¹³⁶,Sebai Molka¹²³,Jilani Houweyda¹³,Elaribi Yasmina¹³,Fenniche Sami³⁵,Cheour Monia³⁴,Bilan Frédéric⁷,Ben Jemaa Lamia¹³⁶

Affiliation:

1. Department of congenital and hereditary diseases, Mongi Slim hospital, La Marsa, Tunisia

2. Human genetics laboratory, LR99ES10- Faculty of Medicine of Tunis, University of Tunis El Manar, Tunis, Tunisia

3. Faculty of Medicine of Tunis, University of Tunis El Manar, Tunis, Tunisia

4. Department of Ophthalmology, Habib Thameur hospital, Tunis, Tunisia

5. Department of Dermatology, Genodermatosis and Cancers Laboratory LR12SP03, Habib Thameur Hospital, Tunis, Tunisia

6. Maternal and Child health laboratory, LR22SP01- Mongi Slim Hospital, Tunis, Tunisia

7. Laboratoire de Génétique, Service de Génétique, CHU Poitiers, Poitiers, France

Funder

no funding

Publisher

Informa UK Limited

Subject

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

Link

https://www.tandfonline.com/doi/pdf/10.1080/13816810.2023.2206891

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5. Heterozygous Germline Mutations in the p53 Homolog p63 Are the Cause of EEC Syndrome