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Ectodermal Dysplasia-Syndactyly Syndrome with Toe-Only Minimal Syndactyly Due to a Novel Mutation in NECTIN4: A Case Report and Literature Review.
Rotunno R, Diociaiuti A, Dentici ML, Rinelli M, Callea M, Retrosi C, Zambruno G, Bellacchio E, El Hachem M. Rotunno R, et al. Genes (Basel). 2021 May 17;12(5):748. doi: 10.3390/genes12050748. Genes (Basel). 2021. PMID: 34067522 Free PMC article. Review.
Ectodermal dysplasia-syndactyly syndrome 1 (EDSS1) is characterized by cutaneous syndactyly of the toes and fingers and abnormalities of the hair and teeth, variably associated with nail dystrophy and palmoplantar keratoderma (PPK). ...
Ectodermal dysplasia-syndactyly syndrome 1 (EDSS1) is characterized by cutaneous syndactyly of the toes a …
Nectinopathies: an emerging group of ectodermal dysplasia syndromes.
Brancati F, Agolini E, Fortugno P. Brancati F, et al. G Ital Dermatol Venereol. 2013 Feb;148(1):59-64. G Ital Dermatol Venereol. 2013. PMID: 23407077 Review.
Cleft Lip/Palate-Ectodermal Dysplasia and Ectodermal Dysplasia-Syndactyly Syndrome are rare congenital disorders caused by recessive mutations in the PVRL1 and PVRL4 genes, respectively. These genes encode nectins 1 and 4, an emerging cla …
Cleft Lip/Palate-Ectodermal Dysplasia and Ectodermal Dysplasia-Syndactyly Syndrome are rare congenital di …
A novel homozygous mutation in PVRL4 causes ectodermal dysplasia-syndactyly syndrome 1.
Florian R, Gruber R, Volc-Platzer B. Florian R, et al. Int J Dermatol. 2018 Feb;57(2):223-226. doi: 10.1111/ijd.13862. Epub 2017 Dec 19. Int J Dermatol. 2018. PMID: 29265343 Review.
Ectodermal dysplasias (EDs) are a group of hereditary disorders defined by alterations in two or more ectodermal structures. One recently described rare entity is the autosomal recessive inherited ectodermal dysplasia-syndactyly syndrome …
Ectodermal dysplasias (EDs) are a group of hereditary disorders defined by alterations in two or more ectodermal structures. O …