Chronic Hypercapnic Respiratory Failure in an Adult Patient with Silver-Russell Syndrome-Reference-Cited by-同舟云学术

Chronic Hypercapnic Respiratory Failure in an Adult Patient with Silver-Russell Syndrome

Published:2021-06-15 Issue:12 Volume:60 Page:1921-1926
ISSN:0918-2918
Container-title:Internal Medicine
language:en
Short-container-title:Intern. Med.

Author:

Hakamata Mariko¹,Hokari Satoshi¹,Ohshima Yasuyoshi¹,Kagami Masayo²,Saito Sakae³⁴,Motoike Ikuko N.³⁵,Abe Taiki⁶,Aoki Nobumasa¹,Hayashi Masachika¹,Watanabe Satoshi¹,Koya Toshiyuki¹,Kikuchi Toshiaki¹

Affiliation:

1. Department of Respiratory Medicine and Infectious Diseases, Niigata University Graduate School of Medical and Dental Sciences, Japan

2. Department of Molecular Endocrinology, National Research Institute for Child Health and Development, Japan

3. Department of Integrative Genomics, Tohoku Medical Megabank Organization, Tohoku University, Japan

4. Department of Molecular Network Analysis, Tohoku University Graduate School of Medicine, Japan

5. Department of Systems Bioinformatics, Tohoku University Graduate School of Information Sciences, Japan

6. Department of Medical Genetics, Tohoku University School of Medicine, Japan

Publisher

Japanese Society of Internal Medicine

Subject

General Medicine,Internal Medicine

Link

https://www.jstage.jst.go.jp/article/internalmedicine/60/12/60_5479-20/_pdf

Reference19 articles.

1. 1. Wakeling EL, Brioude F, Lokulo-Sodipe O, et al. Diagnosis and management of Silver-Russell syndrome: first international consensus statement. Nat Rev Endocrinol 13: 105-124, 2017.

2. 2. Silver HK, Kiyasu W, George J, Deamer WC. Syndrome of congenital hemihypertrophy, shortness of stature, and elevated urinary gonadotropins. Pediatrics 12: 368-376, 1953.

3. 3. Russell A. A syndrome of intra-uterine dwarfism recognizable at birth with cranio-facial dysostosis, disproportionately short arms, and other anomalies (5 examples). Proc R Soc Med 47: 1040, 1954.

4. 4. Azzi S, Salem J, Thibaud N, et al. A prospective study validating a clinical scoring system and demonstrating phenotypical-genotypical correlations in Silver-Russell syndrome. J Med Genet 52: 446-453, 2015.

5. 5. Netchine I, Rossignol S, Dufourg MN, et al. 11p15 imprinting center region 1 loss of methylation is a common and specific cause of typical Russell-Silver syndrome: clinical scoring system and epigenetic-phenotypic correlations. J Clin Endocrinol Metab 92: 3148-3154, 2007.

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