Three Novel IGSF1 Mutations in Four Japanese Patients With X-Linked Congenital Central Hypothyroidism

Akie Nakamura; Beata Bak; Tanya L.R. Silander; Jessica Lam; Tomoyuki Hotsubo; Toru Yorifuji; Katsura Ishizu; Daniel J. Bernard; Toshihiro Tajima

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Three Novel IGSF1 Mutations in Four Japanese Patients With X-Linked Congenital Central Hypothyroidism

机译：X连锁先天性中央甲状腺功能减退的四名日本患者中的三个新的IGSF1突变。

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Context:Congenital central hypothyroidism (C-CH) is a rare disease. We investigated the molecular basis of unexplained C-CH in 4 Japanese boys.

机译：背景：先天性甲状腺功能减退症（C-CH）是一种罕见的疾病。我们调查了4个日本男孩中无法解释的C-CH的分子基础。

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《The journal of clinical endocrinology and metabolism》 |2013年第10期|共10页
作者
Akie Nakamura; Beata Bak; Tanya L.R. Silander; Jessica Lam; Tomoyuki Hotsubo; Toru Yorifuji; Katsura Ishizu; Daniel J. Bernard; Toshihiro Tajima;
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1. A Japanese patient with congenital central hypothyroidism caused by a novel IGSF1 mutation [J] . TakeshiYamaguchi, TomoyukiHothubo, ShuntaroMorikawa, Journal of pediatric endocrinology & metabolism: JPEM . 2018,第3期

机译：一种日本患者，具有先天性中央甲状腺功能亢进症，由新型IGSF1突变引起
2. A novel mutation of IGSF1 in a Japanese patient of congenital central hypothyroidism without macroorchidism [J] . Toshihiro Tajima, Akie Nakamura, Katsura Ishizu Endocrine journal . 2013,第2期

机译：日本先天性中央甲状腺功能减退症患者无大兰花症的一种新的IGSF1突变。
3. A novel mutation of IGSF1 in a Japanese patient of congenital central hypothyroidism without macroorchidism [Rapid Communication] [J] . Akie Nakamura, Katsura Ishizu, Toshihiro Tajima Endocrine journal . 2013,第2期

机译：日本先天性中央性甲状腺功能减退症患者的IGSF1新型突变而无巨睾症[快速交流]
4. Mutation Analysis of MESP2, HES7 and DUSP6 Gene Exons in Patients with Congenital Scoliosis [C] . Xu-sheng QIU, Song ZHOU, Him JIANG, International Research Society of Spinal Deformities . 2012

机译：立式脊柱症患者MES2，HES7和DUSP6基因外显子的突变分析
5. Hippocampal Functioning in Adolescents with Congenital Hypothyroidism. [D] . Wheeler, Sarah Marie. 2011

机译：先天性甲状腺功能减退症青少年的海马功能。
6. Loss-of-function mutations in IGSF1 cause an X-linked syndrome of central hypothyroidism and testicular enlargement [O] . Yu Sun, Beata Bak, Nadia Schoenmakers, -1

机译：丧失功能的突变在IGsF1原因中央甲状腺机能减退和睾丸肿大的X连锁综合征
7. Three Novel IGSF1 Mutations in Four Japanese Patients With X-Linked Congenital Central Hypothyroidism [O] . Nakamura, Akie, Bak, Beata, Silander, Tanya L. R., 2013

机译：X连锁先天性中央甲状腺功能减退的四名日本患者中的三个新的IGSF1突变。

Three Novel IGSF1 Mutations in Four Japanese Patients With X-Linked Congenital Central Hypothyroidism

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