"Atypical" Krabbe disease in two siblings harboring biallelic GALC mutations including a deep intronic variant.
Nicita F, Stregapede F, Deodato F, Pizzi S, Martinelli S, Pagliara D, Aiello C, Cumbo F, Piemonte F, D'Amico J, Pro S, Longo D, Genovese S, Tartaglia M, Escolar ML, Bertini E, Travaglini L.
Nicita F, et al.
Eur J Hum Genet. 2022 Aug;30(8):984-988. doi: 10.1038/s41431-022-01111-z. Epub 2022 May 17.
Eur J Hum Genet. 2022.
PMID: 35581417
Free PMC article.