Associated Papers
Novel phenotype of syndromic premature ovarian insufficiency associated with TP63 molecular defect.
Mathorne SW et al.
Clinical Genetics, 2020
A novel mutation (c.1010G>T; p.R337L) in TP63 as a cause of split-hand/foot malformation with hypodontia.
Jin JY et al.
The Journal of Gene Medicine, 2019
TP63-truncating variants cause isolated premature ovarian insufficiency.
Tucker EJ et al.
Human Mutation, 2019
TP63 mutation in a patient with acro-dermo-ungual-lacrimal-tooth syndrome: Additional evidence of molecular overlap of the ADULT and EEC syndromes.
Chacon-Camacho OF et al.
American Journal of Medical Genetics. Part A, 2016
EEC- and ADULT-associated TP63 mutations exhibit functional heterogeneity toward P63 responsive sequences.
Monti P et al.
Human Mutation, 2013
Further phenotypic and genetic variation in ADULT syndrome.
Reisler TT et al.
American Journal of Medical Genetics. Part A, 2006
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 et al.
American Journal of Medical Genetics. Part A, 2005
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