Long-term follow-up of growth and puberty in 3-M syndrome: effects of growth hormone therapy and response variability.

作者信息

Ozturk Ayse Pinar, Aslanger Ayca Dilruba, Altunoglu Umut, Gulec Cagri, Karakilic Ozturan Esin, Karaman Volkan, Yilmaz Gulec Elif, Gezdirici Alper, Yesil Gozde, Toksoy Guven, Yildiz Melek, Poyrazoglu Sukran, Bas Firdevs, Uyguner Zehra Oya, Kayserili Hulya, Darendeliler Feyza

机构信息

Istanbul University, Istanbul Faculty of Medicine, Department of Pediatrics, Pediatric Endocrinology Unit, Istanbul, Turkey.

Istanbul University, Istanbul Faculty of Medicine, Department of Medical Genetics, Istanbul, Turkey.

出版信息

Endocrine. 2025 Sep 20. doi: 10.1007/s12020-025-04417-2.

DOI:10.1007/s12020-025-04417-2

PMID:40974508

Abstract

摘要

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Long-term follow-up of growth and puberty in 3-M syndrome: effects of growth hormone therapy and response variability.

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本文引用的文献

An Update on 3M Syndrome: Review of Clinical and Molecular Aspects and Report of Additional Families.3M综合征最新进展：临床与分子层面综述及更多家系报告

Am J Med Genet A. 2025 Aug;197(8):e64068. doi: 10.1002/ajmg.a.64068. Epub 2025 Mar 26.

3M syndrome: Evaluating the clinical and laboratory features and the response of the growth hormone treatment: Single center experience.3M 综合征：评估临床和实验室特征以及生长激素治疗的反应：单中心经验。

Eur J Med Genet. 2023 Oct;66(10):104828. doi: 10.1016/j.ejmg.2023.104828. Epub 2023 Sep 4.

Natural history of facial and skeletal features from neonatal period to adulthood in a 3M syndrome cohort with biallelic CUL7 or OBSL1 variants.3M 综合征患者中存在 CUL7 或 OBSL1 双等位基因突变，本文旨在描述其从新生儿期至成年期的面部和骨骼特征的自然史。

Eur J Med Genet. 2021 Dec;64(12):104346. doi: 10.1016/j.ejmg.2021.104346. Epub 2021 Sep 28.

The Effect of Combined Growth Hormone and a Gonadotropin-Releasing Hormone Agonist Therapy on Height in Korean 3-M Syndrome Siblings.联合生长激素和促性腺激素释放激素激动剂治疗对韩国 3-M 综合征同胞身高的影响。

Yonsei Med J. 2020 Nov;61(11):981-985. doi: 10.3349/ymj.2020.61.11.981.

The Human Gene Mutation Database (HGMD): optimizing its use in a clinical diagnostic or research setting.人类基因突变数据库（HGMD）：优化其在临床诊断或研究环境中的使用。

Hum Genet. 2020 Oct;139(10):1197-1207. doi: 10.1007/s00439-020-02199-3. Epub 2020 Jun 28.

Ensembl 2020.Ensembl 2020.

Nucleic Acids Res. 2020 Jan 8;48(D1):D682-D688. doi: 10.1093/nar/gkz966.

New Features for Child Metrics: Further Growth References and Blood Pressure Calculations.儿童生长指标新增功能：更多生长参考值和血压计算。

J Clin Res Pediatr Endocrinol. 2020 Jun 3;12(2):125-129. doi: 10.4274/jcrpe.galenos.2019.2019.0127. Epub 2019 Sep 2.

Further expanding the mutational spectrum and investigation of genotype-phenotype correlation in 3M syndrome.进一步拓展3M综合征的突变谱并研究基因型与表型的相关性。

Am J Med Genet A. 2019 Jul;179(7):1157-1172. doi: 10.1002/ajmg.a.61154. Epub 2019 Apr 13.

Novel mutation in gene in a family diagnosed with 3M syndrome.一个被诊断患有3M综合征的家族中该基因的新突变。

J Genet. 2019 Mar;98.

Male reproductive tract cilia beat to a different drummer.男性生殖道的纤毛跳动与众不同。

Proc Natl Acad Sci U S A. 2019 Feb 26;116(9):3361-3363. doi: 10.1073/pnas.1900112116. Epub 2019 Jan 28.

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