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Fig. 1 | BMC Medical Genomics

Fig. 1

From: Role of PUF60 gene in Verheij syndrome: a case report of the first Chinese Han patient with a de novo pathogenic variant and review of the literature

Fig. 1

A patient with a de novo heterozygous de novo PUF60 variant. a Sanger sequencing confirmation for c.1357C > T PUF60 variant in proband but absence in both parents. b A facial profile to patient. Noted for short neck, thin upper lip, long philtrum, micrognathia and wide nasal bridge, and narrow almond-shaped palpebral fissures

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BMC Medical Genomics

ISSN: 1755-8794

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