Heterozygous LHX3 mutations may lead to a mild phenotype of combined pituitary hormone deficiency

机译：LHX3杂合子突变可能导致垂体激素缺乏综合症的轻度表型

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Phenotypic and biological profiles of the patients bearing the three variants of

机译：携带三种变异的患者的表型和生物学概况

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期刊名称 European Journal of Human Genetics
作者
Nicolas Jullien; Pauline Romanet; Mélanie Philippon; Marie-Hélène Quentien; Paolo Beck-Peccoz; Ignacio Bergada; Sylvie Odent; Rachel Reynaud; Anne Barlier; Alexandru Saveanu; Thierry Brue; Frederic Castinetti;
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作者单位

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年(卷),期 2019(27),2
年度 2019
页码 -1
总页数 10
原文格式 PDF
正文语种
中图分类分子生物学;遗传学;
关键词
Development; Genetic predisposition to disease;

机译：发展;疾病的遗传易感性;

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专利

1. Heterozygous LHX3 mutations may lead to a mild phenotype of combined pituitary hormone deficiency [J] . Jullien Nicolas, Romanet Pauline, Philippon Melanie, European journal of human genetics: EJHG . 2019,第2期

机译：杂合LHX3突变可能导致垂体垂体缺乏的轻度表型
2. Two coexisting heterozygous frameshift mutations in PROP1 are responsible for a different phenotype of combined pituitary hormone deficiency [J] . Ziemnicka K., Budny B., Drobnik K., Journal of Applied Genetics . 2016,第3期

机译：PROP1中两个共存的杂合移码突变是导致垂体激素缺乏综合症的不同表型
3. A novel mutation of LHX3 is associated with combined pituitary hormone deficiency including ACTH deficiency, sensorineural hearing loss, and short neck-a case report and review of the literature. [J] . Bonfig W, Krude H, Schmidt H European journal of pediatrics . 2011,第8期

机译：LHX3的新突变与垂体激素缺乏症（包括ACTH缺乏症，感觉神经性听力损失和脖子短）相关-病例报告和文献复习。
4. Five Novel Mutations in F13B Gene Resulting in Mild FXIII Deficiency [C] . V.Ivaskevicius, H.Rott, H.Trobisch, Hemophilia Symposium . 2008

机译：F13B基因的五种新突变导致轻度FXIII缺乏
5. Combined deficiency of factors V and VIII by chance coinheritance of parahaemophilia and haemophilia A, but not by mutations of either LMAN1 or MCFD2 [D] . 鈴木幸子 2019

机译：副血友病和A血友病的偶然一致性导致因子V和VIII的联合缺乏，但不是LMAN1或MCFD2的突变
6. Two coexisting heterozygous frameshift mutations in PROP1 are responsible for a different phenotype of combined pituitary hormone deficiency [O] . K. Ziemnicka, B. Budny, K. Drobnik, -1

机译：PROP1中两个共存的杂合移码突变是导致垂体激素缺乏症的不同表型的原因
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

Heterozygous LHX3 mutations may lead to a mild phenotype of combined pituitary hormone deficiency

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