Acro-Dermato-Ungual-Lacrimal-Tooth Syndrome: An Uncommon Member of the Ectodermal Dysplasias.
Whittington A, Stein S, Kenner-Bell B.
Pediatr Dermatol. 2016 Sep;33(5):e322-6. doi: 10.1111/pde.12938. Epub 2016 Jul 28.
Acro-dermato-ungual-lacrimal-tooth (ADULT) syndrome: report of a child with phenotypic overlap with ulnar-mammary syndrome and a new mutation in TP63.
Slavotinek AM, Tanaka J, Winder A, Vargervik K, Haggstrom A, Bamshad M.
Am J Med Genet A. 2005 Oct 1;138A(2):146-9. doi: 10.1002/ajmg.a.30900.
Ectodermal dysplasias: the p63 tail.
Tadini G, Santagada F, Brena M, Pezzani L, Nannini P.
G Ital Dermatol Venereol. 2013 Feb;148(1):53-8.
ADULT-syndrome: an autosomal-dominant disorder with pigment anomalies, ectrodactyly, nail dysplasia, and hypodontia.
Propping P, Zerres K.
Am J Med Genet. 1993 Mar 1;45(5):642-8. doi: 10.1002/ajmg.1320450525.
ADULT syndrome: dental features of a very rare condition.
Azzi L, Maurino V, Vinci R, Croveri F, Boggio A, Tagliabue A, Silvestre-Rangil J, Tettamanti L.
J Biol Regul Homeost Agents. 2017 Apr-Jun;31(2 Suppl 1):61-65.
A Family with EEC Syndrome in the Son and ADULT Syndrome in His Father Caused by the c.797G>A (p.Arg266Gln) Pathogenic Variant in the TP63 Gene.
Corona-Rivera JR, Rios-Flores IM, Zenteno JC, Peña-Padilla C, Castillo-Reyes K, Bobadilla-Morales L, Corona-Rivera A, Acosta-Fernández E, Bruckman-Jiménez A.
Mol Syndromol. 2024 Feb;15(1):51-57. doi: 10.1159/000531934. Epub 2023 Aug 18.
A novel mutation (c.1010G>T; p.R337L) in TP63 as a cause of split-hand/foot malformation with hypodontia.
Jin JY, Zeng L, Li K, He JQ, Pang X, Huang H, Xiang R, Tang JY.
J Gene Med. 2019 Oct;21(10):e3122. doi: 10.1002/jgm.3122. Epub 2019 Aug 30.
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.
ADULT syndrome due to an R243W mutation in TP63.
Berk DR, Armstrong NL, Shinawi M, Whelan AJ.
Int J Dermatol. 2012 Jun;51(6):693-6. doi: 10.1111/j.1365-4632.2011.05375.x.
Cleft palate and ADULT phenotype in a patient with a novel TP63 mutation suggests lumping of EEC/LM/ADULT syndromes into a unique entity: ELA syndrome.
Prontera P, Garelli E, Isidori I, Mencarelli A, Carando A, Silengo MC, Donti E.
Am J Med Genet A. 2011 Nov;155A(11):2746-9. doi: 10.1002/ajmg.a.34270. Epub 2011 Oct 11.
