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146 results

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Page 1
Infantile bilateral glaucoma in a child with ectodermal dysplasia.
Callea M, Vinciguerra A, Willoughby CE, Deroma L, Clarich G. Callea M, et al. Among authors: willoughby ce. Ophthalmic Genet. 2013 Mar-Jun;34(1-2):58-60. doi: 10.3109/13816810.2012.666707. Epub 2012 Mar 19. Ophthalmic Genet. 2013. PMID: 22428923
Identification of a novel frameshift mutation in the EDAR gene causing autosomal dominant hypohidrotic ectodermal dysplasia.
Callea M, Willoughby CE, Nieminen P, Di Stazio M, Bellacchio E, Giglio S, Sani I, Vinciguerra A, Maglione M, Tadini G, Clarich G. Callea M, et al. Among authors: willoughby ce. J Eur Acad Dermatol Venereol. 2015 May;29(5):1032-4. doi: 10.1111/jdv.12457. Epub 2014 Mar 18. J Eur Acad Dermatol Venereol. 2015. PMID: 24641098 No abstract available.
A novel INDEL mutation in the EDA gene resulting in a distinct X- linked hypohidrotic ectodermal dysplasia phenotype in an Italian family.
Callea M, Nieminen P, Willoughby CE, Clarich G, Yavuz I, Vinciguerra A, Di Stazio M, Giglio S, Sani I, Maglione M, Pensiero S, Tadini G, Bellacchio E. Callea M, et al. Among authors: willoughby ce. J Eur Acad Dermatol Venereol. 2016 Feb;30(2):341-3. doi: 10.1111/jdv.12747. Epub 2014 Sep 30. J Eur Acad Dermatol Venereol. 2016. PMID: 25266272 No abstract available.
Novel clinical features associated with Clouston syndrome.
Cammarata-Scalisi F, Rinelli M, Pisaneschi E, Diociaiuti A, Willoughby CE, Avendaño A, Digilio MC, Novelli A, Callea M. Cammarata-Scalisi F, et al. Among authors: willoughby ce. Int J Dermatol. 2019 Aug;58(8):e143-e146. doi: 10.1111/ijd.14507. Epub 2019 Jun 5. Int J Dermatol. 2019. PMID: 31165482 No abstract available.
COVID-19 and ectodermal dysplasias. Recommendations are necessary.
Callea M, Willoughby CE, Perry D, Holzer U, Fedele G, Tadich AC, Cammarata-Scalisi F. Callea M, et al. Among authors: willoughby ce. Dermatol Ther. 2020 Sep;33(5):e13702. doi: 10.1111/dth.13702. Epub 2020 Jul 14. Dermatol Ther. 2020. PMID: 32475001 Free PMC article. No abstract available.
Membranous aplasia cutis congenita in trisomy 18.
Cammarata-Scalisi F, Diociaiuti A, de Guerrero B, Willoughby CE, Callea M. Cammarata-Scalisi F, et al. Among authors: willoughby ce. Ital J Pediatr. 2020 Aug 27;46(1):120. doi: 10.1186/s13052-020-00885-6. Ital J Pediatr. 2020. PMID: 32854736 Free PMC article.
Challenges in Communicating a Genetic Diagnosis.
Cammarata-Scalisi F, Willoughby CE, Romano V, Callea M. Cammarata-Scalisi F, et al. Among authors: willoughby ce. Children (Basel). 2023 Mar 31;10(4):672. doi: 10.3390/children10040672. Children (Basel). 2023. PMID: 37189921 Free PMC article.
146 results