Nonsyndromic Early-Onset Cone-Rod Dystrophy and Limb-Girdle Muscular Dystrophy in a Consanguineous Israeli Family are Caused by Two Independent yet Linked Mutations in ALMS1 and DYSF.
Lazar CH, Kimchi A, Namburi P, Mutsuddi M, Zelinger L, Beryozkin A, Ben-Simhon S, Obolensky A, Ben-Neriah Z, Argov Z, Pikarsky E, Fellig Y, Marks-Ohana D, Ratnapriya R, Banin E, Sharon D, Swaroop A.
Lazar CH, et al. Among authors: mutsuddi m.
Hum Mutat. 2015 Sep;36(9):836-41. doi: 10.1002/humu.22822. Epub 2015 Jul 14.
Hum Mutat. 2015.
PMID: 26077327
Free PMC article.