TUBB4A de novo mutations cause isolated hypomyelination

OBJECTIVE: We present a series of unrelated patients with isolated hypomyelination, with or without mild cerebellar atrophy, and de novo TUBB4A mutations. METHODS: Patients in 2 large institutional review board–approved leukodystrophy bioregistries at Children's National Medical Center and Mont...

Deskribapen osoa

Gorde:
Xehetasun bibliografikoak
Egile Nagusiak: Pizzino, Amy, Pierson, Tyler Mark, Guo, Yiran, Helman, Guy, Fortini, Sebastian, Guerrero, Kether, Saitta, Sulagna, Murphy, Jennifer Louise Patrick, Padiath, Quasar, Xie, Yi, Hakonarson, Hakon, Xu, Xun, Funari, Tara, Fox, Michelle, Taft, Ryan J., van der Knaap, Marjo S., Bernard, Geneviève, Schiffmann, Raphael, Simons, Cas, Vanderver, Adeline
Formatua: Artigo
Hizkuntza:Inglês
Argitaratua: Lippincott Williams & Wilkins 2014
Gaiak:
Article
Sarrera elektronikoa:https://ncbi.nlm.nih.gov/pmc/articles/PMC4153852/
https://ncbi.nlm.nih.gov/pubmed/25085639
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1212/WNL.0000000000000754
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