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. Author manuscript; available in PMC: 2023 Jul 11.
Published in final edited form as: Am J Med Genet A. 2019 Dec 27;182(3):513–520. doi: 10.1002/ajmg.a.61450

FIGURE 2.

FIGURE 2

Physical features of Patient 1, an 11-year old male diagnosed with X-linked trichothiodystrophy due to a truncating variant in the RNF113A gene. (a) Facial photograph showing sparse and brittle hair. (b) Profile photograph showing dolichocephaly. He also had downslanting palpebral fissures, low columella, widely spaced, and peg-shaped teeth. (c) Photograph of hand showing tapered fingers. (d) Photograph of foot showing mild 2–3 toe syndactyly