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Familial Isolated Growth Hormone Deficiency Due to A Novel Homozygous Missense Mutation in the Growth Hormone Releasing Hormone Receptor Gene: Clinical Presentation With Hypoglycemia

机译：由于一种生长激素释放激素受体基因的新型纯合物畸变突变引起的家庭分离生长激素缺乏：低血糖症的临床介绍

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Huseyin Demirbilek; Sophia Tahir; Riza Taner Baran; Maha Sherif; Pratik Shah; Mehmet Nuri Ozbek; Nebahat Hatipoglu; Ahmet Baran; Ved Bhushan Arya; Khalid Hussain;
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1. Familial Isolated Growth Hormone Deficiency Due to A Novel Homozygous Missense Mutation in the Growth Hormone Releasing Hormone Receptor Gene: Clinical Presentation With Hypoglycemia [J] . Huseyin Demirbilek, Sophia Tahir, Riza Taner Baran, The journal of clinical endocrinology and metabolism . 2014,第12期

机译：由于生长激素释放激素受体基因中的新型纯合子错义突变而导致的家族性孤立生长激素缺乏症：低血糖的临床表现
2. Growth hormone releasing hormone receptor (GHRH-r) gene mutation in Indian children with familial isolated growth hormone deficiency: a study from western India. [J] . Desai MP, Upadhye PS, Kamijo T, Journal of pediatric endocrinology & metabolism: JPEM . 2005,第10期

机译：印度儿童家族性孤立生长激素缺乏症的生长激素释放激素受体（GHRH-r）基因突变：一项来自印度西部的研究。
3. A nonsense mutation (E72X) in growth hormone releasing hormone receptor (GHRHR) gene is the major cause of familial isolated growth hormone deficiency in Western region of India: founder effect suggested by analysis of dinucleotide repeat polymorphis [J] . Kamijo T, Hayashi Y, Seo H, Growth hormone and IGF research: Official journal of the Growth Hormone Research Society and the International IGF Research Society . 2004,第5期

机译：生长激素释放激素受体（GHRHR）基因中的无意义突变（E72X）是印度西部地区家族性孤立生长激素缺乏症的主要原因：双核苷酸重复多态性分析提示了创始人效应
4. Isolated Growth Hormone Deficiency Type 2: From Gene to Therapy [C] . Maria Consolata Miletta, Didier Lochmatter, Vibor Pektovic, European Society of Pediatric Endocrinology Advanced Seminar in Developmental Endocrinology . 2012

机译：分离的生长激素缺乏型2：从基因到治疗
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. Novel Growth Hormone-Releasing Hormone Receptor Gene Mutations in Turkish Children with Isolated Growth Hormone Deficiency [O] . Ahmet Arman, Bumin Nuri Dündar, Ergun Çetinkaya, 2014

机译：在孤立的生长激素缺乏症的土耳其儿童中的新型生长激素释放激素受体基因突变。
7. Diagnóstico clínico e laboratorial da deficiência isolada do hormônio do crescimento em crianças e adolescentes portadores da mutação no gene do receptor do hormônio liberador do hormônio de crescimento em Itabaianinha, Sergipe Clinical and laboratorial diagnosis isolated deficiency of growth hormone in children and adolescents with mutation in receptor gene of growth hormone-releasing hormone in Itabaianinha, SE, Brazil [O] . Carlos Alberto Menezes, Valdinaldo Aragão, Fabrício Rios-Santos, 2004

机译：Itabaianinha，sergipe中生长激素释放激素受体基因突变的儿童和青少年孤立生长激素缺乏的临床和实验室诊断临床和实验室诊断分离的生长激素缺乏儿童和青少年受体突变巴西东南部Itabaianinha的生长激素释放激素基因

Familial Isolated Growth Hormone Deficiency Due to A Novel Homozygous Missense Mutation in the Growth Hormone Releasing Hormone Receptor Gene: Clinical Presentation With Hypoglycemia

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