Novel gross deletion mutation c.‐105_4042+498del in the TNXB gene in a Japanese woman with classical‐like Ehlers–Danlos syndrome: A case of uneventful pregnancy and delivery

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Published in:Journal of dermatology 2021-05, Vol.48 (5), p.e227-e228
Main Authors: Watanabe, Shoko, Ito, Yuki, Samura, Osamu, Nakano, Hajime, Sawamura, Daisuke, Asahina, Akihiko, Itoh, Munenari
Format: Article
Language:English
Subjects:
Ehlers-Danlos syndrome
Ehlers-Danlos Syndrome - diagnosis
Ehlers-Danlos Syndrome - genetics
Female
Gene deletion
Humans
Japan
Mutation
Phenotype
Pregnancy
Sequence Deletion
Tenascin - genetics
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container_title Journal of dermatology
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creator Watanabe, Shoko
Ito, Yuki
Samura, Osamu
Nakano, Hajime
Sawamura, Daisuke
Asahina, Akihiko
Itoh, Munenari
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doi_str_mv 10.1111/1346-8138.15837
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source Wiley-Blackwell Read & Publish Collection
subjects Ehlers-Danlos syndrome
Ehlers-Danlos Syndrome - diagnosis
Ehlers-Danlos Syndrome - genetics
Female
Gene deletion
Humans
Japan
Mutation
Phenotype
Pregnancy
Sequence Deletion
Tenascin - genetics
title Novel gross deletion mutation c.‐105_4042+498del in the TNXB gene in a Japanese woman with classical‐like Ehlers–Danlos syndrome: A case of uneventful pregnancy and delivery
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