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. 2021 May 13;12:660953. doi: 10.3389/fgene.2021.660953

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Copyright © 2021 Xiao, Feng, Long, Xiao and Luo.

This is an open-access article distributed under the terms of the Creative Commons Attribution License (CC BY). The use, distribution or reproduction in other forums is permitted, provided the original author(s) and the copyright owner(s) are credited and that the original publication in this journal is cited, in accordance with accepted academic practice. No use, distribution or reproduction is permitted which does not comply with these terms.

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Clinical images of the proband. (A) The facial characteristics of the proband (broad forehead, high anterior hairline, and a thin upper vermilion). (B) Spastic gait and dystonia of wrists. (C) Contracture of the fingers. (D) Scarring and pigmentation following ulceration of the leg. (E) Deformities of the interphalangeal joints and ulnar deviation of the left metacarpal. (F) Deformity of both maxilla and mandible. (G) Complete loss of teeth and alveolar bone. (H) Multiple intracranial calcifications (bilateral lenticular and frontal lobe).