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Case Reports in Dermatological Medicine
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2023
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Article
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Tab 1
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Case Report
Clouston Syndrome: Report of a Jordanian Family with GJB6 Gene Mutation
Table 1
Genetic test for the patient.
Gene
Variant cHGVS
pHGVS
Type
Zygosity
dbSNP
Interpretation
GJB6
NM_006783.4:c.31G > A
p. Gly11Arg SNV
SNV
Het
NA
Pathogenic