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Three Novel Missense Mutations within the LHX4 Gene Are Associated with Variable Pituitary Hormone Deficiencies

机译：LHX4基因内的三个新型错义突变与可变的垂体激素缺乏症相关联。

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Context: The LHX4 LIM-homeodomain transcription factor has essential roles in pituitary gland and nervous system development. Heterozygous mutations in LHX4 are associated with combined pituitary hormone deficiency.

机译：背景：LHX4 LIM同源结构域转录因子在垂体和神经系统发育中具有重要作用。 LHX4中的杂合突变与垂体激素缺乏症有关。

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Pfaeffle, Roland W.; Hunter, Chad S.; Savage, Jesse J.; Duran-Prado, Mario; Mullen, Rachel D.; Neeb, Zachary P.; Eiholzer, Urs; Hesse, Volker; Haddad, Nadine G.; Stobbe, Heike M.; Blum, Werner F.; Weigel, Johannes F. W.; Rhodes, Simon J.;
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专利

1. A Novel Missense Mutation (P366T) of the LHX4 Gene Causes Severe Combined Pituitary Hormone Deficiency with Pituitary Hypoplasia, Ectopic Posterior Lobe and a Poorly Developed Sella Turcica [J] . Junko TSUBAKI, Kenji FUJIEDA, Koji OKUHARA, Endocrine journal . 2007,第4期

机译：LHX4基因的新型畸形突变（P366T）导致严重的垂体激素缺乏垂体发育不全，异位后叶和发达不良的罕有子
2. Mutation and Gene Copy Number Analyses of Six Pituitary Transcription Factor Genes in 71 Patients with Combined Pituitary Hormone Deficiency: Identification of a Single Patient with LHX4 Deletion [J] . Sumito Dateki, Maki Fukami, Ayumi Uematsu, The journal of clinical endocrinology and metabolism . 2010,第8期

机译：71例垂体激素缺乏综合症患者6个垂体转录因子基因的突变和基因拷贝数分析：单例LHX4缺失患者的鉴定
3. Unilateral agenesis of internal carotid artery associated with congenital combined pituitary hormone deficiency and pituitary stalk interruption without HESX1, LHX4 or OTX2 mutation: a case report [J] . Faïza Lamine, Faouzi Kanoun, Melika Chihaoui, Pituitary . 2012,第s1期

机译：伴有先天性垂体激素缺乏和垂体柄中断而未发生HESX1，LHX4或OTX2突变的颈内动脉单侧发育不全：一例
4. GIy222Isp and Ser379Lys - Nowef Factor X Gene Mutations in sewere FX Deficiency - GreifswaSd Registry of Factor I congenital Deficiency [C] . F. H. Herrmann, K. Wulff, S. Lqpaciuk, Hemophilie-Symposion . 2003

机译：GIY222ISP和SER379LYS - Nutef因子X基因突变在Sewere FX缺陷中 - Greifswasd注册表I先天性缺乏
5. Plasticity of pituitary hormone secretion, expression and cell numbers within the anterior pituitary glands of human growth hormone-releasing hormone transgenic mice: Focus on galanin, growth hormone, and prolactin. [D] . Moore, Joseph Patrick, Jr. 1997

机译：人类生长激素释放激素转基因小鼠的垂体前叶垂体激素分泌，表达和细胞数量的可塑性：专注于甘丙肽，生长激素和催乳激素。
6. Three Novel Missense Mutations within the LHX4 Gene Are Associated with Variable Pituitary Hormone Deficiencies [O] . Roland W. Pfaeffle, Chad S. Hunter, Jesse J. Savage, -1

机译：LHX4基因内的三个新型错义突变与可变的垂体激素缺乏症相关联。
7. Molecular analysis of PROP1, PIT1, HESX1, LHX3, and LHX4 shows high frequency of PROP1 mutations in patients with familial forms of combined pituitary hormone deficiency Análise molecular de PROP1, PIT1, HESX1, LHX3 e LHX4 mostra alta freqüência de mutações no PROP1 em pacientes com formas familiares de deficiência combinada de hormônios hipofisários [O] . Teresa C. Vieira, Valter T. Boldarine, Julio Abucham 2007

机译：患有垂体激素缺乏症的家族型患者的PROP1，PIT1，HESX1，LHX3和LHX4的分子分析显示高频率的PROP1突变患者的PROP1，PIT1，HESX1，LHX3和LHX4的分子分析显示患者中的高PROP1突变频率合并垂体激素缺乏的家族形式

Three Novel Missense Mutations within the LHX4 Gene Are Associated with Variable Pituitary Hormone Deficiencies

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