☆ 3.9 Article

Loss of Function Variants in the XPC Causes Severe Xeroderma Pigmentosum in Three Large Consanguineous Families

KLINISCHE PADIATRIE (2022)

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Journal

KLINISCHE PADIATRIE
Volume 234, Issue 3, Pages 123-129

Publisher

GEORG THIEME VERLAG KG
DOI: 10.1055/a-1552-3788

Keywords

Xeroderma pigmentosum; Pakistani families; Homozygosity mapping; XPC gene; Novel frameshift mutation

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Pediatrics

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