Trisomy 12p mosaicism syndrome in a patient with hypopigmented cutaneous mosaicism and three cell lines in peripheral blood.

Autor: Porcar Saura S; Department of Dermatology, Clinical University Hospital, University of Valencia, Valencia, Spain., Díaz Giménez M; Department of Genetics, Clinical University Hospital, University of Valencia, Valencia, Spain., Guillén-Climent S; Department of Dermatology, Clinical University Hospital, University of Valencia, Valencia, Spain., Villar C; Deparment of Pediatrics, Clinical University Hospital, University of Valencia, Valencia, Spain., Ruiz Quilez A; Department of Genetics, Clinical University Hospital, University of Valencia, Valencia, Spain., Abellán Sanchez MR; Department of Genetics, Clinical University Hospital, University of Valencia, Valencia, Spain., Cuesta Peredo A; Department of Genetics, Clinical University Hospital, University of Valencia, Valencia, Spain., Martín JM; Department of Dermatology, Clinical University Hospital, University of Valencia, Valencia, Spain.
Jazyk: angličtina
Zdroj: Journal of the European Academy of Dermatology and Venereology : JEADV [J Eur Acad Dermatol Venereol] 2023 Jan; Vol. 37 (1), pp. e54-e58. Date of Electronic Publication: 2022 Aug 27.
DOI: 10.1111/jdv.18555
Databáze: MEDLINE