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Late Onset Central Hypoventilation Syndrome due to a Heterozygous Polyalanine Repeat Expansion Mutation in the PHOX2B Gene

机译：由于PHOX2B基因杂合多聚丙氨酸重复扩增突变而导致迟发性中央换气不足综合征。

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摘要

This report describes a 6 year old girl with late onset central hypoventilation syndrome due to a heterozygous polyalanine repeat expansion mutation in the PHOX2B gene. This report aims to increase the awareness of this condition among physicians to allow earlier clinical and genetic diagnosis and management of cases of unexplained hypoventilation.

机译：该报告描述了一个6岁女孩，由于PHOX2B基因中杂合的聚丙氨酸重复扩增突变而导致迟发性中央通气不足综合征。本报告旨在提高医师对这种情况的认识，以使早期的临床和遗传学诊断以及对无法解释的通气不足病例的处理得到管理。

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作者
Al Rashdi, Ismail; Al Ghafri, Mohammed; Al Hanshi, Said; Al Macki, Nabil;
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年度 2011
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正文语种 en
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专利

1. Treatment of Neuroblastoma in Congenital Central Hypoventilation Syndrome With a PHOX2B Polyalanine Repeat Expansion Mutation: New Twist on a Neurocristopathy Syndrome [J] . Armstrong Amy E., Weese-Mayer Debra E., Mian Amir, Pediatric blood & cancer . 2015 ,第11期

机译：用PHOX2B聚丙氨酸重复扩展突变治疗先天性中央通气不足综合征的神经母细胞瘤：神经性脊椎病综合征的新转折。
2. Three-Generation Family With Congenital Central Hypoventilation Syndrome and Novel PHOX2B Gene Non-Polyalanine Repeat Mutation [J] . Kasi Ajay S., Jurgensen Taryn J., Yen Stephanie, Journal of clinical sleep medicine: JCSM : official publication of the American Academy of Sleep Medicine . 2017 ,第7期

机译：三代家庭，具有先天性中枢逆向综合征和新型PHOX2B基因非聚甘露氨基重复突变
3. Distinct pathogenetic mechanisms for PHOX2B associated polyalanine expansions and frameshift mutations in congenital central hypoventilation syndrome. [J] . Bachetti T, Matera I, Borghini S, Human Molecular Genetics . 2005 ,第13期

机译：先天性中枢性通气不足综合征与PHOX2B相关的聚丙氨酸扩展和移码突变的独特致病机制。
4. Preliminary Data on the Usability and Efficacy of an Assistive Device for the Congenital Central Hypoventilation Syndrome: An Observational Study [C] . E. Biffi, C. Piazza, F. Morandi Mediterranean Conference on Medical and Biological Engineering and Computin . 2016

机译：关于先天性血吸化综合征辅助装置的可用性和功效的初步数据：观察研究
5. Microanalysis of the repeat expansion mutation and protein subcellular localization phenomenon associated with fragile X syndrome mental retardation [D] . Malter, Henry Ernest 1999

机译：脆性X综合征智力低下相关基因重复扩增突变和蛋白质亚细胞定位现象的微观分析。
6. Late Onset Central Hypoventilation Syndrome due to a Heterozygous Polyalanine Repeat Expansion Mutation in the PHOX2B Gene [O] . Ismail Al Rashdi, Mohammed Al Ghafri, Said Al Hanshi, 2011

机译：由于PHOX2B基因杂合多聚丙氨酸重复扩增突变而导致迟发性中央换气不足综合征。
7. PHOX2B mutations and polyalanine expansions correlate with the severity of the respiratory phenotype and associated symptoms in both congenital and late onset Central Hypoventilation syndrome [O] . Matera, I., Bachetti, T., Puppo, F., 2004

机译：在先天性和迟发性中央换气不足综合征中，PHOX2B突变和聚丙氨酸扩增与呼吸表型的严重程度及相关症状相关

Late Onset Central Hypoventilation Syndrome due to a Heterozygous Polyalanine Repeat Expansion Mutation in the PHOX2B Gene

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