Mutations in NDUFB11, Encoding a Complex I Component of the Mitochondrial Respiratory Chain, Cause Microphthalmia with Linear Skin Defects Syndrome

Microphthalmia with linear skin defects (MLS) syndrome is an X-linked male-lethal disorder also known as MIDAS (microphthalmia, dermal aplasia, and sclerocornea). Additional clinical features include neurological and cardiac abnormalities. MLS syndrome is genetically heterogeneous given that heteroz...

Descripción completa

Guardado en:
Detalles Bibliográficos
Publicado en:Am J Hum Genet
Autores principales: van Rahden, Vanessa A., Fernandez-Vizarra, Erika, Alawi, Malik, Brand, Kristina, Fellmann, Florence, Horn, Denise, Zeviani, Massimo, Kutsche, Kerstin
Formato: Artigo
Lenguaje:Inglês
Publicado: Elsevier 2015
Materias:
Report
Acceso en línea:https://ncbi.nlm.nih.gov/pmc/articles/PMC4385192/
https://ncbi.nlm.nih.gov/pubmed/25772934
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.ajhg.2015.02.002
Etiquetas: Agregar Etiqueta
Sin Etiquetas, Sea el primero en etiquetar este registro!

Ejemplares similares