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TP63-Related Disorders.
Sutton VR, van Bokhoven H. Sutton VR, et al. 2010 Jun 8 [updated 2021 Apr 1]. In: Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2024. 2010 Jun 8 [updated 2021 Apr 1]. In: Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2024. PMID: 20556892 Free Books & Documents. Review.
Acro-dermo-ungual-lacrimal-tooth (ADULT) syndrome. Ectrodactyly, ectodermal dysplasia, cleft lip/palate syndrome 3 (EEC3). Limb-mammary syndrome. Split-hand/foot malformation type 4 (SHFM4). Isolated cleft lip/cleft palate ( …
Acro-dermo-ungual-lacrimal-tooth (ADULT) syndrome. Ectrodactyly, ectodermal dysplasia, cleft lip/palate syndrome …
A novel TP63 variant in a patient with ankyloblepharon-ectodermal defect-cleft lip/palate syndrome and Rapp-Hodgkin syndrome-like ectodermal dysplasia.
Hori A, Migita O, Isogawa N, Takada F, Hata K. Hori A, et al. Hum Genome Var. 2022 May 20;9(1):17. doi: 10.1038/s41439-022-00186-w. Hum Genome Var. 2022. PMID: 35595744 Free PMC article.
Ankyloblepharon-ectodermal defect-cleft lip/palate syndrome and Rapp-Hodgkin syndrome are well-known TP63-related autosomal-dominant genetic disorders with various similar ectodermal dysplasias. ...
Ankyloblepharon-ectodermal defect-cleft lip/palate syndrome and Rapp-Hodgkin syndrome are well-known TP63-relate …
Rapp-Hodgkin syndrome.
Kim G, Shin H. Kim G, et al. Dermatol Online J. 2004 Nov 30;10(3):23. Dermatol Online J. 2004. PMID: 15748593 Free article.
A 5-year-old boy with a history of a bifid uvula and a submucosal cleft palate presented for evaluation of brittle nails. The physical examination demonstrated cup-shaped ears, a broad nasal root, thin upper lip, mid-facial hypoplasia, coarse hair, and twenty-nail d …
A 5-year-old boy with a history of a bifid uvula and a submucosal cleft palate presented for evaluation of brittle nails. The …
Pili Torti: A Feature of Numerous Congenital and Acquired Conditions.
Hoffmann A, Waśkiel-Burnat A, Żółkiewicz J, Blicharz L, Rakowska A, Goldust M, Olszewska M, Rudnicka L. Hoffmann A, et al. J Clin Med. 2021 Aug 30;10(17):3901. doi: 10.3390/jcm10173901. J Clin Med. 2021. PMID: 34501349 Free PMC article. Review.
Inherited forms may be either isolated or associated with numerous genetic diseases or syndromes (e.g., Menkes disease, Bjornstad syndrome, Netherton syndrome, and Bazex-Dupre-Christol syndrome). Moreover, pili torti may be a feature of various ectoder …
Inherited forms may be either isolated or associated with numerous genetic diseases or syndromes (e.g., Menkes disease, Bjornstad …
Mutation in SAM domain of TP63 is associated with nonsyndromic cleft lip and palate and cleft palate.
Kantaputra PN, Malaivijitnond S, Vieira AR, Heering J, Dötsch V, Khankasikum T, Sripathomsawat W. Kantaputra PN, et al. Am J Med Genet A. 2011 Jun;155A(6):1432-6. doi: 10.1002/ajmg.a.34011. Epub 2011 May 12. Am J Med Genet A. 2011. PMID: 21567929
Mutations in sterile alpha motif (SAM) domain of TP63 have been reported to be associated with ankyloblepharon-ectodermal dysplasia-cleft lip/palate syndrome and Rapp-Hodgkin syndrome. SAM domain, a protein-protein interaction module, is found in cytop …
Mutations in sterile alpha motif (SAM) domain of TP63 have been reported to be associated with ankyloblepharon-ectodermal dysplasia-cleft …
A spectrum of TP63-related disorders with eight affected individuals in five unrelated families.
Soğukpınar M, Utine GE, Boduroğlu K, Şimşek-Kiper PÖ. Soğukpınar M, et al. Eur J Med Genet. 2024 Apr;68:104911. doi: 10.1016/j.ejmg.2024.104911. Epub 2024 Jan 26. Eur J Med Genet. 2024. PMID: 38281558 Free article.
TP63-related disorders are associated with heterozygous pathogenic variants in TP63 and include seven overlapping phenotypes; Ankyloblepharon-ectodermal defects-cleft lip/palate syndrome (AEC), Ectrodactyly-ectodermal dysplasia-cleft lip/palate …
TP63-related disorders are associated with heterozygous pathogenic variants in TP63 and include seven overlapping phenotypes; Ankyloblepharo …
Rapp-Hodgkin ectodermal dysplasia.
Schroeder HW Jr, Sybert VP. Schroeder HW Jr, et al. J Pediatr. 1987 Jan;110(1):72-5. doi: 10.1016/s0022-3476(87)80291-3. J Pediatr. 1987. PMID: 3794888
Rapp-Hodgkin ectodermal dysplasia is an autosomal dominant condition characterized by distinctive craniofacies, cleft lip or palate, dental hypoplasia with caries, dystrophic nails, and decreased to absent sweat glands and hair follicles. We report the third family …
Rapp-Hodgkin ectodermal dysplasia is an autosomal dominant condition characterized by distinctive craniofacies, cleft lip or palat …
Craniofacial and anthropometric phenotype in ankyloblepharon-ectodermal defects-cleft lip/palate syndrome (Hay-Wells syndrome) in a cohort of 17 patients.
Sutton VR, Plunkett K, Dang DX, Lewis RA, Bree AF, Bacino CA. Sutton VR, et al. Am J Med Genet A. 2009 Sep;149A(9):1916-21. doi: 10.1002/ajmg.a.32791. Am J Med Genet A. 2009. PMID: 19676059
Ankyloblepharon-ectodermal dysplasia-cleft lip/palate (AEC) syndrome and Rapp-Hodgkin syndrome are well-characterized clinical entities caused by mutations in the TP63 gene. While AEC and Rapp-Hodgkin had been thought to be clinically distinct entities …
Ankyloblepharon-ectodermal dysplasia-cleft lip/palate (AEC) syndrome and Rapp-Hodgkin syndrome are well-characte …
Dental management of Rapp-Hodgkin syndrome associated with oral cleft and hypodontia.
Karthikeyani S, Thirumurthy VR, Yuvaraja BA. Karthikeyani S, et al. J Indian Soc Pedod Prev Dent. 2016 Apr-Jun;34(2):192-5. doi: 10.4103/0970-4388.180453. J Indian Soc Pedod Prev Dent. 2016. PMID: 27080974
Rapp-Hodgkin syndrome (RHS) is a rare type of autosomal dominant disorder characterized by association of ectodermal dysplasia (ED) with cleft lip/palate. ...RHS has signs and symptoms that overlap considerably with those of ankyloblepharon-ED-clefting syn …
Rapp-Hodgkin syndrome (RHS) is a rare type of autosomal dominant disorder characterized by association of ectodermal dysplasia (ED) w …
Scalp dermatitis, ectodermal dysplasia and cleft lip and palate: rapp-hodgkin or AEC syndrome.
Rowan DM. Rowan DM. Australas J Dermatol. 1996 May;37(2):102-3. doi: 10.1111/j.1440-0960.1996.tb01016.x. Australas J Dermatol. 1996. PMID: 8687323
A female infant with ectodermal dysplasia, bilateral cleft lip and palate and a recalcitrant scalp dermatitis is presented. She had features of both Rapp-Hodgkin syndrome and AEC syndrome. It has recently been suggested in the literature that these two …
A female infant with ectodermal dysplasia, bilateral cleft lip and palate and a recalcitrant scalp dermatitis is presented. Sh …
59 results