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A familial syndrome of short stature associated with facial dysplasia and genital anomalies.

作者信息

Aarskog D

出版信息

J Pediatr. 1970 Nov;77(5):856-61. doi: 10.1016/s0022-3476(70)80247-5.

DOI:10.1016/s0022-3476(70)80247-5
PMID:5504078
Abstract
摘要

相似文献

1
A familial syndrome of short stature associated with facial dysplasia and genital anomalies.
J Pediatr. 1970 Nov;77(5):856-61. doi: 10.1016/s0022-3476(70)80247-5.
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Elucidation of a 'new' pleiotropic connective tissue disorder.
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[Faciodigitogenital (Aarskog-Scott) syndrome].
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Aarskog syndrome: significance for the surgeon.阿斯克格综合征:对外科医生的意义。
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5
[Aarskog syndrome (author's transl)].
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Agonadism XY with familial recurrence.
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Linear growth in patients with Turner syndrome: influence of spontaneous puberty and parental height.特纳综合征患者的线性生长:自然青春期和父母身高的影响
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8
The Aarskog syndrome.阿斯克格综合征
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Identification of short stature caused by SHOX defects and therapeutic effect of recombinant human growth hormone.SHOX缺陷所致身材矮小的识别及重组人生长激素的治疗效果
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Experience with growth hormone therapy in Turner syndrome in a single centre: low total height gain, no further gains after puberty onset and unchanged body proportions.单一中心特纳综合征生长激素治疗的经验:总身高增长较低,青春期开始后无进一步增长且身体比例无变化。
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FGD1-related Aarskog-Scott syndrome: Identification of four novel variations and a literature review of clinical and molecular aspects.与FGD1相关的阿尔斯科格-斯科特综合征:四个新变异的鉴定及临床和分子方面的文献综述
Eur J Pediatr. 2024 May;183(5):2257-2272. doi: 10.1007/s00431-024-05484-9. Epub 2024 Feb 27.
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Congenital Torticollis in a Child With Cervical Spine Deformity: A Case Report and Literature Review.一名患有颈椎畸形儿童的先天性斜颈:病例报告及文献综述
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A novel frameshift mutation in the gene causing Aarskog-Scott syndrome patient with hypogonadism: a case report.
导致患有性腺功能减退的Aarskog-Scott综合征患者的基因中出现一种新的移码突变:病例报告。
Transl Pediatr. 2021 May;10(5):1377-1385. doi: 10.21037/tp-21-26.
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Anaesthetic considerations in Aarskog Scott Syndrome: A syndrome new to our understanding.阿斯克格-斯科特综合征的麻醉注意事项:一种我们新认识的综合征。
Saudi J Anaesth. 2021 Apr-Jun;15(2):216-218. doi: 10.4103/sja.sja_1047_20. Epub 2021 Apr 1.
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The Prevalence of Clinical Features in Patients with Aarskog-Scott Syndrome and Assessment of Genotype-Phenotype Correlation: A Systematic Review.Aarskog-Scott 综合征患者的临床特征患病率及基因型-表型相关性评估:系统评价。
Genet Res (Camb). 2021 Feb 2;2021:6652957. doi: 10.1155/2021/6652957. eCollection 2021.
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Aarskog-Scott syndrome: clinical and molecular characterisation of a family with the coexistence of a novel FGD1 mutation and 16p13.11-p12.3 microduplication.Aarskog-Scott 综合征:存在新型 FGD1 突变和 16p13.11-p12.3 微重复的一家系的临床和分子特征。
BMJ Case Rep. 2020 Jun 30;13(6):e235183. doi: 10.1136/bcr-2020-235183.
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Identification of CDC42 Effectors Operating in FGD1-Dependent Trafficking at the Golgi.鉴定在高尔基体中参与FGD1依赖性运输的CDC42效应蛋白。
Front Cell Dev Biol. 2019 Feb 4;7:7. doi: 10.3389/fcell.2019.00007. eCollection 2019.
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Aarskog-Scott syndrome: An unusual cause of scoliosis.阿斯克格-斯科特综合征:脊柱侧弯的一种罕见病因。
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Ruptured Posterior Communicating Artery Aneurysm Associated with Aarskog Syndrome.破裂性后交通动脉瘤与阿尔斯科格综合征相关
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Novel variant in the gene causing Aarskog-Scott syndrome.导致阿尔斯kog-斯科特综合征的基因中的新型变异体。
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