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Fig. 1 | BMC Medical Genomics

Fig. 1

From: Identification of de novo mutations for ARID1B haploinsufficiency associated with Coffin–Siris syndrome 1 in three Chinese families via array-CGH and whole exome sequencing

Fig. 1

Pedigrees of the three patients. a Trio of case 1 with 6q25.3 microdeletion; b pictures of face and hand of case 1. c Trio of case 2 with c.2332 + 1G > A mutation in ARID1B; d Pictures of hands and foot of case 2; e trio of case 3 with c.4741C > T (p.Q1581X) mutation in ARID1B; f pictures of hands and foot of case 3

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