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Adam MP, Feldman J, Mirzaa GM, et al., editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2024.

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Figure 1. . Clinical photographs of individuals with SETBP1 haploinsufficiency disorder.

Figure 1.

Clinical photographs of individuals with SETBP1 haploinsufficiency disorder. The numbers refer to the patient numbers in Jansen et al [2021]. Individuals 3 and 4 are sisters.

Two individuals were first reported by Coe et al [2014]. An update of their clinical features was given by Jansen et al [2021].

Reprinted from Jansen et al [2021]

From: SETBP1 Haploinsufficiency Disorder

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