Clinical features of a male with a USP9X variant associated with intellectual disability: A case study and review of reported cases-Reference-Cited by-同舟云学术

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Clinical features of a male with a USP9X variant associated with intellectual disability: A case study and review of reported cases

Published:2021-11-04 Issue:2 Volume:188 Page:672-675
ISSN:1552-4825
Container-title:American Journal of Medical Genetics Part A
language:en
Short-container-title:American J of Med Genetics Pt A

Author:

Fong Nikki¹,Wei Heming²,Lim Jiin Ying¹,Goh Chew‐Yin Jasmine³,Kam Sylvia¹,Jamuar Saumya Shekhar¹⁴^ORCID,Tan Ene‐Choo²⁴^ORCID

Affiliation:

1. Genetics Service, Department of Paediatrics KK Women's and Children's Hospital Singapore

2. Research Laboratory KK Women's and Children's Hospital Singapore

3. Division of Nursing – Nursing Specialist Service KK Women's and Children's Hospital Singapore

4. SingHealth Duke‐NUS Academic Clinical Programme Singapore

Funder

National Medical Research Council

Ministry of Health

Publisher

Wiley

Subject

Genetics (clinical),Genetics

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1002/ajmg.a.62555

Reference10 articles.

1. Familial Pityriasis Rubra Pilaris Is Caused by Mutations in CARD14

2. Mutations in USP9X Are Associated with X-Linked Intellectual Disability and Disrupt Neuronal Cell Migration and Growth

3. Partial Loss of USP9X Function Leads to a Male Neurodevelopmental and Behavioral Disorder Converging on Transforming Growth Factor β Signaling

4. Novel USP9X variant associated with syndromic intellectual disability in a female: A case study and review

5. La FAM fatale: USP9X in development and disease

Cited by 3 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. Periventricular heterotopia in a male child with USP9X missense variant;American Journal of Medical Genetics Part A;2023-01-21

2. Molecular diagnosis and novel genes and phenotypes in a pediatric thoracic insufficiency cohort;Scientific Reports;2023-01-18

3. Novel Variant in the <b><i>USP9X</i></b> Gene Is Associated with Congenital Heart Disease in a Male Patient: A Case Report and Literature Review;Molecular Syndromology;2022-12-23

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