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Fig. 1 | BMC Medical Genetics

Fig. 1

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. 1

Clinical photographs of the index patient. a-b Mild 2nd, 3rd toe syndactyly, eczema, recurrent onychomadesis, recurrent skin infections causing desquamation; c the patient at 2 years of age - sparse hair, eyelashes and eyebrows, depressed flat nasal bridge, hypoplastic alae nasi, thin vermillion border, mild epicanthus, ankyloblepharon and unilateral left cleft lip and palate s/p repair

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BMC Medical Genetics

ISSN: 1471-2350

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