Possible underreporting of pathogenic variants in RAI1 causing Smith–Magenis syndrome-Reference-Cited by-同舟云学术

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Possible underreporting of pathogenic variants in RAI1 causing Smith–Magenis syndrome

Published:2021-06-04 Issue:10 Volume:185 Page:3167-3169
ISSN:1552-4825
Container-title:American Journal of Medical Genetics Part A
language:en
Short-container-title:Am J Med Genet

Author:

Boot Erik¹²³^ORCID,Linders Cathelijne C.¹⁴,Tromp Sterre H.⁴,Boogaard Marie‐José⁴,Eeghen Agnies M.¹⁵

Affiliation:

1. Advisium, 's Heeren Loo Amersfoort The Netherlands

2. The Dalglish Family 22q Clinic University Health Network Toronto Ontario Canada

3. Department of Psychiatry & Neuropsychology Maastricht University Maastricht The Netherlands

4. Department of Genetics University Medical Center Utrecht Utrecht The Netherlands

5. Department of Pediatrics Emma Children's Hospital, Amsterdam University Medical Center Amsterdam The Netherlands

Publisher

Wiley

Subject

Genetics(clinical),Genetics

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1002/ajmg.a.62380

Reference11 articles.

1. Evolution of Genetic Techniques: Past, Present, and Beyond

2. Gender, genotype, and phenotype differences in Smith-Magenis syndrome: a meta-analysis of 105 cases

3. Smith–Magenis syndrome

4. RAI1 gene mutations: mechanisms of Smith–Magenis Syndrome

5. Birt‐Hogg‐Dubé symptoms in Smith‐Magenis syndrome include pediatric‐onset pneumothorax

Cited by 10 articles. 订阅此论文施引文献订阅此论文施引文献，注册后可以免费订阅5篇论文的施引文献，订阅后可以查看论文全部施引文献

1. Investigation of setmelanotide, an MC4R agonist, for obesity in individuals with Smith-Magenis syndrome;Obesity Research & Clinical Practice;2024-07

2. Neurodevelopmental Disorders in Children with Hereditary Diseases (Review of Literature, Clinical Case Report);Lviv Clinical Bulletin;2024-06-28

3. Smith–Magenis syndrome protein RAI1 regulates body weight homeostasis through hypothalamic BDNF-producing neurons and neurotrophin downstream signalling;eLife;2023-11-13

4. Smith–Magenis syndrome protein RAI1 regulates body weight homeostasis through hypothalamic BDNF-producing neurons and neurotrophin downstream signalling;eLife;2023-11-13

5. Smith-Magenis syndrome protein RAI1 regulates body weight homeostasis through hypothalamic BDNF-producing neurons and neurotrophin downstream signalling;2023-07-31

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