| 著者 |
Ochiai, Kayo
青木, 良則
WEKO
34963
e-Rad_Researcher
70726629
| ja |
青木, 良則
宮崎大学
|
| ja-Kana |
アオキ, ヨシノリ
|
| en |
Aoki, Yoshinori
University of Miyazaki
|
Search repository
Yamada, Naoshi
阿萬, 紫
WEKO
34712
e-Rad_Researcher
50444790
| ja |
阿萬, 紫
宮崎大学
|
| ja-Kana |
アマン, ムラサキ
|
| en |
Aman, Murasaki
University of Miyazaki
|
Search repository
山下, 篤
WEKO
9416
e-Rad_Researcher
90372797
| ja |
山下, 篤
宮崎大学
|
| ja-Kana |
ヤマシタ, アツシ
|
| en |
Yamashita, Atsushi
University of Miyazaki
|
Search repository
山口, 昌俊
WEKO
20790
e-Rad_Researcher
90174630
| ja |
山口, 昌俊
宮崎大学
|
| ja-Kana |
ヤマグチ, マサトシ
|
| en |
Yamaguchi, Masatoshi
University of Miyazaki
|
Search repository
Nakato, Daisuke
Takenouchi, Toshiki
Kosaki, Kenjiro
児玉, 由紀
盛武, 浩
WEKO
28692
e-Rad_Researcher
40336300
| ja |
盛武, 浩
宮崎大学
|
| ja-Kana |
モリタケ, ヒロシ
|
| en |
Moritake, Hiroshi
University of Miyazaki
|
Search repository
|
|
内容記述 |
Tricho-hepato-enteric syndrome (THES), a rare autosomal recessive disorder caused by variants in the SKIC3 or SKIC2 gene, is characterized by intractable diarrhea, woolly hair, growth restriction and liver disease. Here we report a neonatal case of THES with neonatal hemochromatosis, in which the novel compound heterozygous SKIC3 variants NM_014639.4:c.815_816del p.(Gly272AlafsTer9) and NM_014639.4:c.2284G>A p.(Gly762Arg) were identified. Further research is needed to elucidate the mechanisms underlying iron metabolism dysregulation in THES. |
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