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. Author manuscript; available in PMC: 2023 Feb 22.
Published in final edited form as: Clin Dysmorphol. 2021 Jan;30(1):1–5. doi: 10.1097/MCD.0000000000000360

Figure 1.

Figure 1.

(A) Pedigree of affected family

(B) Clinical photographs of proband: subtle dysmorphic features with brachycephaly, hypotonic facies, telecanthus, downslanting palpebral fissures, strabismus, wide nasal bridge, bulbous nasal tip, thick vermilion of lips, open mouth and profound hypotonia

(C) IGV of proband showing sequence variant c.178G>T, p.(Glu60Ter) in PURA in heterozygous state and sequence chromatograms of affected family showing heterozygous variant c.178G>T, p.(Glu60Ter) in PURA in the proband. The variant was not observed in her parents