Absent meibomian glands and cone dystrophy in ADULT syndrome: identification by whole exome sequencing of pathogenic variants in two causal genes TP63CNGB3.
Hizem S, Maamouri R, Zaouak A, Rejeb I, Karoui S, Sebai M, Jilani H, Elaribi Y, Fenniche S, Cheour M, Bilan F, Ben Jemaa L.
Ophthalmic Genet. 2024 Feb;45(1):84-94. doi: 10.1080/13816810.2023.2206891. Epub 2023 May 9.
PMID:37158316
EEC-LM-ADULT syndrome caused by R319H mutation in TP63 with ectrodactyly, syndactyly, and teeth anomaly: A case report.
Otsuki Y, Ueda K, Nuri T, Satoh C, Maekawa R, Yoshiura KI.
Medicine (Baltimore). 2020 Oct 30;99(44):e22816. doi: 10.1097/MD.0000000000022816.