Uniparental disomy of chromosome 16 unmasks recessive mutations of FA2H/SPG35 in 4 families.
Soehn AS, Rattay TW, Beck-Wödl S, Schäferhoff K, Monk D, Döbler-Neumann M, Hörtnagel K, Schlüter A, Ruiz M, Pujol A, Züchner S, Riess O, Schüle R, Bauer P, Schöls L.
Soehn AS, et al.
Neurology. 2016 Jul 12;87(2):186-91. doi: 10.1212/WNL.0000000000002843. Epub 2016 Jun 17.
Neurology. 2016.
PMID: 27316240
Free PMC article.