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Related to AEC syndrome: EEC syndrome
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Group III represents cases of AFA in association with ectodermal syndromes (ankyloblepharon-ectodermal dysplasia-clefting AEC syndromes) syndromes as seen in this case.
Roop, "[DELTA]Np63 knockdown mice: a mouse model for AEC syndrome," American Journal of Medical Genetics A, vol.
Antonini et al., "Mutant p63 causes defective expansion of ectodermal progenitor cells and impaired FGF signalling in AEC syndrome," EMBO Molecular Medicine, vol.
A clinical diagnosis of AEC syndrome was made by a consultant clinical geneticist.
The oral findings of AEC syndrome in 34 patients have been reported in the literature, and have been found to be generally consistent with what might be expected by combining the dental findings of patients with ectodermal dysplasia and cleft lip/palate [Farrington and Lausten, 2009].