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. Author manuscript; available in PMC: 2017 May 31.
Published in final edited form as: Eur J Hum Genet. 2017 Mar 22;25(5):552–559. doi: 10.1038/ejhg.2017.27

Figure 4.

Figure 4

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. Patient 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.