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. 2020 Aug 20;58(7):484–494. doi: 10.1136/jmedgenet-2020-106987

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© Author(s) (or their employer(s)) 2021. Re-use permitted under CC BY-NC. No commercial re-use. See rights and permissions. Published by BMJ.

This is an open access article distributed in accordance with the Creative Commons Attribution Non Commercial (CC BY-NC 4.0) license, which permits others to distribute, remix, adapt, build upon this work non-commercially, and license their derivative works on different terms, provided the original work is properly cited, appropriate credit is given, any changes made indicated, and the use is non-commercial. See: http://creativecommons.org/licenses/by-nc/4.0/.

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Identification of CIC de novo variants in two CFD sibships. (A) Pedigree of Family 1. (B) Pedigree of Family 2. (C) Sequence chromatogram of Family 1 proband and her parents. (D) Sequence chromatogram of Family 2 proband and the health sibling. CFD, cerebral folate deficiency.