Art
J-GLOBAL ID：201802210530040511   Reference number：18A0224568

PPP1CB遺伝子変異を同定したNoonan syndrome-like disorder with loose anagen hair 2の一例

Author (9)：
TAKEDA YOSHIATSU

About TAKEDA YOSHIATSU

(東京都小児総合医療セ 臨床遺伝科)

About 東京都小児総合医療セ 臨床遺伝科

, 
KUTSUKATA TOMU

About KUTSUKATA TOMU

(千葉県こども病院 遺伝科)

About 千葉県こども病院 遺伝科

, 
UEHARA TOMOKO

About UEHARA TOMOKO

(慶応大 医 臨床遺伝学セ)

About 慶応大 医 臨床遺伝学セ

, 
TAKENOUCHI TOSHIKI

About TAKENOUCHI TOSHIKI

(慶応大 医 臨床遺伝学セ)

About 慶応大 医 臨床遺伝学セ

, 
FUTAGAWA HIROSHI

About FUTAGAWA HIROSHI

(東京都小児総合医療セ 臨床遺伝科)

About 東京都小児総合医療セ 臨床遺伝科

, 
ITO SHIHO

About ITO SHIHO

(東京都小児総合医療セ 臨床遺伝科)

About 東京都小児総合医療セ 臨床遺伝科

, 
ITO SHIHO

About ITO SHIHO

(東京都小児総合医療セ 看護部)

About 東京都小児総合医療セ 看護部

, 
KOSAKI KENJIRO

About KOSAKI KENJIRO

(慶応大 医 臨床遺伝学セ)

About 慶応大 医 臨床遺伝学セ

, 
YOSHIHASHI HIROSHI

About YOSHIHASHI HIROSHI

(東京都小児総合医療セ 臨床遺伝科)

About 東京都小児総合医療セ 臨床遺伝科


Material：
日本小児遺伝学会学術集会プログラム・抄録集

About 日本小児遺伝学会学術集会プログラム・抄録集


Volume： 40th  Page： 110  Publication year： 2018 
JST Material Number： L7746A  Document type： Proceedings
Article type： 会議録記事  Country of issue： Japan (JPN)  Language： JAPANESE (JA)
Thesaurus term：
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*connective tissue disease

About connective tissue disease

,...
Semi thesaurus term：
Thesaurus term/Semi thesaurus term
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All keywords is available on JDreamIII(charged).
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*Noonan Syndrome

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,...
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JST classification (3)：
JST classification
Category name(code) classified by JST.
Molecular genetics in general 
(EC02010J)

About Molecular genetics in general

,  Clinical medicine on cardiovascular system in general 
(GJ01030V)

About Clinical medicine on cardiovascular system in general

,  Congenital diseases,deformities in general. 
(GD03010V)

About Congenital diseases,deformities in general.

Terms in the title (2)：
Terms in the title
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遺伝子変異

About 遺伝子変異

, 
同定

About 同定


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