TUBB4A -Related Leukodystrophy

Autor: Nahhas, Norah, Conant, Alex, Hamilton, Eline, Curiel, Julian, Simons, Cas, van der Knaap, Marjo, Vanderver, Adeline

Publikováno v: Nahhas, N, Conant, A, Hamilton, E, Curiel, J, Simons, C, van der Knaap, M & Vanderver, A 2016, TUBB4A-Related Leukodystrophy . University of Washington, Seattle . < http://www.ncbi.nlm.nih.gov/pubmed/27809427 >

CLINICAL CHARACTERISTICS TUBB4A -related leukodystrophy comprises a phenotypic spectrum in which the MRI findings range from hypomyelination with atrophy of the basal ganglia and cerebellum (H-ABC) at the severe end to isolated hypomyelination at the

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=dedup_wf_001::6b2eb933459c4bd58209306079946827
https://research.vumc.nl/en/publications/fed0b9cf-3dfc-48a8-a1ac-b6e93ff140b2