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Improved growth and bone mineral density in type I trichorhinophalangeal syndrome in response to growth hormone therapy.

作者信息

Sarafoglou K, Moassesfar S, Miller B S

出版信息

Clin Genet. 2010 Dec;78(6):591-3. doi: 10.1111/j.1399-0004.2010.01434.x.

DOI:10.1111/j.1399-0004.2010.01434.x
PMID:20569260
Abstract
摘要

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Improved growth and bone mineral density in type I trichorhinophalangeal syndrome in response to growth hormone therapy.生长激素治疗对Ⅰ型毛发鼻指综合征患者生长及骨密度的改善作用
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引用本文的文献

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Case report: A novel mutation in 1 identified in a Chinese family with tricho-rhino-phalangeal syndrome I: A therapeutic challenge.病例报告:在中国一个患有I型毛发-鼻-指综合征的家族中鉴定出1号基因的一种新突变:一项治疗挑战。
Front Pediatr. 2022 Nov 18;10:990230. doi: 10.3389/fped.2022.990230. eCollection 2022.
2
Recombinant Human Growth Hormone Therapy for Childhood Trichorhinophalangeal Syndrome Type I: A Case Report.重组人生长激素治疗儿童I型毛发鼻指综合征:一例报告
Children (Basel). 2022 Sep 22;9(10):1447. doi: 10.3390/children9101447.
3
Novel Loss-of-Function Mutations in Cause Acromesomelic Dysplasia, Maroteaux Type.
基因中的新型功能丧失突变导致马罗托型肢端中胚层发育不良。
Front Genet. 2022 Mar 16;13:823861. doi: 10.3389/fgene.2022.823861. eCollection 2022.
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TRPS1 mutation detection in Chinese patients with Tricho-rhino-phalangeal syndrome and identification of four novel mutations.在中国的 Trichorhino-phalangeal 综合征患者中检测 TRPS1 突变,并鉴定出四个新的突变。
Mol Genet Genomic Med. 2020 Oct;8(10):e1417. doi: 10.1002/mgg3.1417. Epub 2020 Aug 10.
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An early diagnosis of trichorhinophalangeal syndrome type 1: a case report and a review of literature.1 型三联征骨-甲-外胚层发育不良的早期诊断:病例报告及文献复习。
Ital J Pediatr. 2018 Nov 20;44(1):138. doi: 10.1186/s13052-018-0580-z.
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A novel TRPS1 gene mutation causing trichorhinophalangeal syndrome with growth hormone responsive short stature: a case report and review of the literature.一种导致毛发鼻指综合征伴生长激素反应性身材矮小的新型TRPS1基因突变:病例报告及文献复习
Int J Pediatr Endocrinol. 2014;2014(1):16. doi: 10.1186/1687-9856-2014-16. Epub 2014 Aug 15.
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Trps1 differentially modulates the bone mineral density between male and female mice and its polymorphism associates with BMD differently between women and men.Trps1 差异调节雌雄小鼠的骨密度,其多态性在女性和男性中与 BMD 的关联不同。
PLoS One. 2014 Jan 8;9(1):e84485. doi: 10.1371/journal.pone.0084485. eCollection 2014.