Fig. 4: Clinical data. | Genetics in Medicine

Fig. 4: Clinical data.

From: Loss-of-function and missense variants in NSD2 cause decreased methylation activity and are associated with a distinct developmental phenotype

Fig. 4

(a) Facial features of the affected individuals reported in this study. The age in years (y) and months (m) is reported beside each patient ID. (b) Combined facial gestalt obtained by combining frontal photos using the Face2Gene online research tool (see Materials and Methods and Web Resources). Photos from 12 different patients, including those depicted in (a), were used for this purpose. (c) Family tree of family number 6 in this study. M+/−/? = presence (+), absence (−), or unknown status (?) for the p.Asp1158Glyfs*11 variant in each NSD2 allele. Clinically affected individuals are shown as full symbols.

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