Sporadic hypothalamic hamartoma is a ciliopathy with somatic and bi-allelic contributions.
Green TE, Motelow JE, Bennett MF, Ye Z, Bennett CA, Griffin NG, Damiano JA, Leventer RJ, Freeman JL, Harvey AS, Lockhart PJ, Sadleir LG, Boys A, Scheffer IE, Major H, Darbro BW, Bahlo M, Goldstein DB, Kerrigan JF, Heinzen EL, Berkovic SF, Hildebrand MS.
Green TE, et al.
Hum Mol Genet. 2022 Jul 21;31(14):2307-2316. doi: 10.1093/hmg/ddab366.
Hum Mol Genet. 2022.
PMID: 35137044
Free PMC article.