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Fig. 4 | BMC Medical Genomics

Fig. 4

From: Analysis of clinical phenotypes and genetic variations in two pedigrees affected with Weiss–Kruszka syndrome

Fig. 4

Sanger sequencing results for two family pedigrees. Genetic testing revealed that Proband 1 had a de novo variant in the NM_021224.6:c.6696–2 A > C ZNF462 variant and that the parents carried the wild-type gene. B Genetic testing revealed that the NM_021224.6:c.4891 C > T:p.Glu1631Ter ZNF462 variant in Proband 2 was inherited from the mother. The father carried the wild-type gene

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BMC Medical Genomics

ISSN: 1755-8794

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