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Fig. 2 | BMC Medical Genetics

Fig. 2

From: Novel heterozygous pathogenic variants in CHUK in a patient with AEC-like phenotype, immune deficiencies and 1q21.1 microdeletion syndrome: a case report

Fig. 2

CHUK pathogenic variants and segregation studies. a Family pedigree showing segregation studies; b Sanger sequencing indicates that the c.1365del variant was maternally-inherited. The c.1388C > A (p.Thr463Lys) was not detected in either parental sample. Paternity was confirmed, indicating that the c.1388C > A variant arose de novo

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BMC Medical Genetics

ISSN: 1471-2350

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