Menkes disease complicated by concurrent Koolen‐de Vries syndrome (17q21.31 deletion)

BACKGROUND: Koolen‐de Vries (KdV) syndrome is caused by a 17q21.31 deletion leading to clinical symptoms of hypotonia and developmental delay and can present with abnormal hair texture. Menkes disease is an X‐linked recessive inherited disease caused by pathogenic variants in ATP7A, which leads to p...

Descripción completa

Detalles Bibliográficos
Autores principales: Woodfin, Taylor, Stoops, Christine, Philips, Joseph B., Lose, Edward, Mikhail, Fady M., Hurst, Anna
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley and Sons Inc. 2019
Materias:
Clinical Reports
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6687649/
https://www.ncbi.nlm.nih.gov/pubmed/31250568
http://dx.doi.org/10.1002/mgg3.829

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6687649/
https://www.ncbi.nlm.nih.gov/pubmed/31250568
http://dx.doi.org/10.1002/mgg3.829

Ejemplares similares