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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.
We here report a consanguineous family with a 2-year-old girl featuring EDSS1, including slowly progressive alopecia on the head, pili torti-like twisted hairs in trichoscopy, widely spaced, peg-shaped and conical teeth, proximal syndactyly with fusion of the 2nd to …
We here report a consanguineous family with a 2-year-old girl featuring EDSS1, including slowly progressive alopecia on the head, pili torti …
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.
The patient presents brittle scalp hair, sparse eyebrows and eyelashes, widely spaced conical teeth and dental agenesis, as well as toenail dystrophy and mild PPK. She has minimal proximal syndactyly limited to toes 2-3, which makes the phenotype of our patie …
The patient presents brittle scalp hair, sparse eyebrows and eyelashes, widely spaced conical teeth and dental agenesis, as we …