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Expanding the clinical and radiological phenotypes of leukoencephalopathy due to biallelic HMBS mutations.

Pubmed ID: 
34089223
Year: 
2021
Month: 
Jun
Citation: 
Stutterd CA, Kidd A, Florkowski C, Janus E, Fanjul M, Raizis A, Wu TY, Archer J, Leventer RJ, Amor DJ, Lukic V, Bahlo M, Gow P, Lockhart PJ, van der Knaap MS, Delatycki MB. Expanding the clinical and radiological phenotypes of leukoencephalopathy due to biallelic HMBS mutations. American journal of medical genetics. Part A (2021) PubMed