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. 2017 Mar 22;25(5):552–559. doi: 10.1038/ejhg.2017.27

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Copyright © 2017 The Author(s)

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Faces of patients (1, 2, 3, 4,6, 7, 8, 9, 10 and 11) with PUF60 variants, illustrating the thin upper lip, long philtrum, micrognathia and the flaring of eyebrows and narrow almond-shaped palpebral fissures, which are variably present. Patients 6 and 8 were assessed for CdLS and patients 7 and 10 had CREBBP analysis because of facial similarities with Rubinstein–Taybi syndrome. Patient 9 was investigated for Coffin–Siris syndrome.