X-linked chondrodysplasia punctata type 1 (CDPX1) - case report with atypical phenotype

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 literature. The aim of this study is to describe an...

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Номзүйн дэлгэрэнгүй

Үндсэн зохиолчид:	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
Формат:	Artigo
Хэл сонгох:	Inglês
Хэвлэсэн:	Centro Universitário São Camilo 2024-05-01
Цуврал:	O Mundo da Saúde
Нөхцлүүд:	genetics chondrodysplasia punctata child
Онлайн хандалт:	https://revistamundodasaude.emnuvens.com.br/mundodasaude/article/view/1527
Шошгууд:	Шошго нэмэх Шошго байхгүй, Энэхүү баримтыг шошголох эхний хүн болох!