Cargando...

Severe neonatal Marfan syndrome resulting from a de novo 3-bp insertion into the fibrillin gene on chromosome 15.

Severe neonatal Marfan syndrome has features of the Marfan syndrome and congenital contractural arachnodactyly present at birth, along with unique features such as loose, redundant skin and pulmonary emphysema. Since the Marfan syndrome and congenital contractural arachnodactyly are due to mutations...

Descripción completa

Guardado en:
Detalles Bibliográficos
Autores principales: Milewicz, D. M., Duvic, M.
Formato: Artigo
Lenguaje:Inglês
Publicado: 1994
Materias:
Acceso en línea:https://ncbi.nlm.nih.gov/pmc/articles/PMC1918129/
https://ncbi.nlm.nih.gov/pubmed/8116614
Etiquetas: Agregar Etiqueta
Sin Etiquetas, Sea el primero en etiquetar este registro!