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pro vyhledávání: '"Laura de Paula Miguel"'
Autor:
João Victor Riposati Canedo, Laura de Paula Miguel, Ana Clara Sueno Toda, Milena Franco de Pontes, Maria Julia Calheiros Santos Diniz, Fabiana Benedini Galli Zambardino, Guido de Paula Colares Neto
Publikováno v:
O Mundo da Saúde, Vol 48 (2024)
Structural chromosomal changes on chromosome 14 are uncommon and can lead to a diverse spectrum of clinical manifestations, including hypotonia, delayed psychomotor development, cognitive deficits, and facial dysmorphisms. The specific phenotype is i
Externí odkaz:
https://doaj.org/article/d972f06932c64d028631edc4da35bee0
Autor:
Ana Clara Sueno Toda, Milena Franco de Pontes, Laura de Paula Miguel, Maria Julia Calheiros Santos Diniz, João Victor Riposati Canedo, Patricia Salmona, Guido de Paula Colares Neto
Publikováno v:
O Mundo da Saúde, Vol 48 (2024)
Chondrodysplasia punctata (CDP) is a group of bone dysplasias characterized by punctate calcifications in the cartilage, mainly epiphyseal. Among the various forms of CDP, the X-linked form is rare and has been described in 50 male patients in the li
Externí odkaz:
https://doaj.org/article/ad460c4b92bc4070ba29ef7dd0feafd6