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p63-associated disorders.
Rinne T, Brunner HG, van Bokhoven H. Rinne T, et al. Cell Cycle. 2007 Feb 1;6(3):262-8. doi: 10.4161/cc.6.3.3796. Epub 2007 Feb 3. Cell Cycle. 2007. PMID: 17224651 Free article. Review.
Heterozygous mutations in the transcription factor gene p63 are causative for several syndromes, with ectodermal dysplasia, orofacial clefting and limb malformations as the key characteristics. Different combinations of these features are seen in five different synd …
Heterozygous mutations in the transcription factor gene p63 are causative for several syndromes, with ectodermal dysplasia, or …
Corneal changes in ectrodactyly-ectodermal dysplasia-cleft lip and palate syndrome: case series and literature review.
Felipe AF, Abazari A, Hammersmith KM, Rapuano CJ, Nagra PK, Peiro BM. Felipe AF, et al. Int Ophthalmol. 2012 Oct;32(5):475-80. doi: 10.1007/s10792-012-9585-6. Epub 2012 May 23. Int Ophthalmol. 2012. PMID: 22618129 Review.
The aim of this study is to describe the corneal changes in three unrelated patients with ectrodactyly-ectodermal dysplasia-cleft lip and palate (EEC) syndrome and review the literature on the possible etiology and clinical present …
The aim of this study is to describe the corneal changes in three unrelated patients with ectrodactyly-ectodermal dysplasia …
Distal limb malformations: underlying mechanisms and clinical associations.
Sifakis S, Basel D, Ianakiev P, Kilpatrick M, Tsipouras P. Sifakis S, et al. Clin Genet. 2001 Sep;60(3):165-72. doi: 10.1034/j.1399-0004.2001.600301.x. Clin Genet. 2001. PMID: 11595015 Review.
Recent studies have identified several of the signaling molecules, growth factors, and transcriptional regulators involved in the initiation and maintenance of the apical ectodermal ridge (AER) as well as the molecular markers defining the three axes of the developing limb …
Recent studies have identified several of the signaling molecules, growth factors, and transcriptional regulators involved in the initiation …
Innovative Therapeutic Approaches for the Treatment of the Ocular Morbidities in Patients with EEC Syndrome.
Barbaro V, Bonelli F, Ferrari S, La Vella G, Di Iorio E. Barbaro V, et al. Cells. 2023 Feb 2;12(3):495. doi: 10.3390/cells12030495. Cells. 2023. PMID: 36766837 Free PMC article. Review.
Ectrodactyly-Ectodermal dysplasia-Clefting (EEC) syndrome is caused by heterozygous missense point mutations in the p63 gene, an important transcription factor during embryogenesis and for stem cell differentiation in stratified epithelia. ...However, …
Ectrodactyly-Ectodermal dysplasia-Clefting (EEC) syndrome is caused by heterozygous missense point mutations in …
Genitourinary anomalies are a component manifestation in the ectodermal dysplasia, ectrodactyly, cleft lip/palate (EEC) syndrome.
Rollnick BR, Hoo JJ. Rollnick BR, et al. Am J Med Genet. 1988 Jan;29(1):131-6. doi: 10.1002/ajmg.1320290116. Am J Med Genet. 1988. PMID: 3278611 Review.
Here we report on 13 individuals with the EEC syndrome from a single craniofacial clinic population. Eight of 13 underwent genitourinary (GU) evaluation; all had abnormal findings. ...Results support the suggestion that GU anomalies are a major component of the EEC synd …
Here we report on 13 individuals with the EEC syndrome from a single craniofacial clinic population. Eight of 13 underwent genitourin …
Ectodermal dysplasias associated with clefting: significance of scalp dermatitis.
Fosko SW, Stenn KS, Bolognia JL. Fosko SW, et al. J Am Acad Dermatol. 1992 Aug;27(2 Pt 1):249-56. doi: 10.1016/0190-9622(92)70179-j. J Am Acad Dermatol. 1992. PMID: 1341424 Free article. Review.
Several clinical syndromes are characterized by ectodermal dysplasia (ED) in association with clefting of the lip and/or palate. The three most commonly recognized entities are (1) the EEC syndrome (ectodermal dysplasia, ectroda …
Several clinical syndromes are characterized by ectodermal dysplasia (ED) in association with clefting of the lip and/o …