A case of xeroderma pigmentosum group C with rare compound heterozygous mutations

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Published in:EJD. European journal of dermatology 2024-04, Vol.34 (2), p.226-241
Main Authors: Kawaguchi, Kozo, Kido-Nakahara, Makiko, Kuba-Fuyuno, Yoko, Tsuji, Gaku, Ono, Ryusuke, Nishigori, Chikako, Nakahara, Takeshi
Format: Article
Language:English
Subjects:
Female
Heterozygote
Humans
Male
Mutation
Xeroderma Pigmentosum - complications
Xeroderma Pigmentosum - genetics
Xeroderma Pigmentosum - pathology
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container_title EJD. European journal of dermatology
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creator Kawaguchi, Kozo
Kido-Nakahara, Makiko
Kuba-Fuyuno, Yoko
Tsuji, Gaku
Ono, Ryusuke
Nishigori, Chikako
Nakahara, Takeshi
description
doi_str_mv 10.1684/ejd.2024.4660
format article
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source Springer Nature
subjects Female
Heterozygote
Humans
Male
Mutation
Xeroderma Pigmentosum - complications
Xeroderma Pigmentosum - genetics
Xeroderma Pigmentosum - pathology
title A case of xeroderma pigmentosum group C with rare compound heterozygous mutations
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