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Ear nose throat manifestations in hypoidrotic ectodermal dysplasia.
Callea M, Teggi R, Yavuz I, Tadini G, Priolo M, Crovella S, Clarich G, Grasso DL. Callea M, et al. Among authors: clarich g. Int J Pediatr Otorhinolaryngol. 2013 Nov;77(11):1801-4. doi: 10.1016/j.ijporl.2013.09.004. Epub 2013 Sep 13. Int J Pediatr Otorhinolaryngol. 2013. PMID: 24080322 Review.
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: clarich g. 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.
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: clarich g. 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: clarich g. 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 case of Beckwith-Wiedemann syndrome with peculiar dental findings.
Callea M, Yavuz I, Clarich G, Gunay A, Vinciguerra A, Unal M, Sahbaz C, Sinan Dogan M, Cammarata-Scalisi F. Callea M, et al. Among authors: clarich g. Eur J Paediatr Dent. 2016 Dec;17(4):315-317. Eur J Paediatr Dent. 2016. PMID: 28045321
24 results