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Table 3 CNV genotypes that correlate with BA patients’ clinical phenotype

From: Patient complexity and genotype-phenotype correlations in biliary atresia: a cross-sectional analysis

Patients

Comorbidity

CNV location

Gene

Human phenotype

BA99

Diabetes Mellitus type 1

16:81947921-82095870 (dup)

PLCG2

PLCG2-associated antibody deficiency and immune dysregulation; diabetes mellitus type 1 [33]

BA44

Hashimoto thyroiditis

18:7080664-7584939 (dup)

PTPRM

Autoimmune disease [34, 35]

BA68

Eczema

18:55546006-56018494 (dup)

NEDD4L

asthma; metabolism; hypertension disease [36, 37]

BA123

nil

20:10533666-10694525 (del)

JAG1

Alagille syndrome, BA [7]

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