Caregiver‐reported clinical characteristics and the burden associated with Kabuki syndrome-Reference-Cited by-同舟云学术

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Caregiver‐reported clinical characteristics and the burden associated with Kabuki syndrome

Published:2020-04-04 Issue:7 Volume:182 Page:1592-1600
ISSN:1552-4825
Container-title:American Journal of Medical Genetics Part A
language:en
Short-container-title:Am J Med Genet

Author:

Theodore‐Oklota Christina¹,Egan Shayna²^ORCID,Paulich Maggie²,Evans Christopher J.³,Hartman Deborah S.⁴,Hoffman Deborah L.⁴,Björnsson Hans T.⁵⁶

Affiliation:

1. Ultragenyx Pharmaceutical Inc. Brisbane California USA

2. Endpoint Outcomes Long Beach California USA

3. Endpoint Outcomes Boston Massachusetts USA

4. Takeda Pharmaceuticals Cambridge Massachusetts USA

5. Johns Hopkins University Baltimore Maryland USA

6. University of Iceland Reykjavik Iceland

Publisher

Wiley

Subject

Genetics (clinical),Genetics

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1002/ajmg.a.61584

Reference18 articles.

1. Kabuki syndrome: international consensus diagnostic criteria

2. Kabuki syndrome: a review

3. Mutation Update for Kabuki Syndrome GenesKMT2DandKDM6Aand Further Delineation of X-Linked Kabuki Syndrome Subtype 2

4. Neurobehavioral features in individuals with Kabuki syndrome

Cited by 6 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. Navigating the transition of care in patients with inborn errors of immunity: a single-center’s descriptive experience;Frontiers in Immunology;2023-10-03

2. Molecular insights of KMT2D and clinical aspects of Kabuki syndrome type 1;Birth Defects Research;2023-05-09

3. Health-Related Quality of Life and Family Functioning of Primary Caregivers of Children with Menkes Disease;Journal of Clinical Medicine;2023-02-22

4. A Qualitative Study to Characterize the Humanistic Burden of Kabuki Syndrome in the United States and Canada;Advances in Therapy;2021-11-29

5. Burden of care in families of patients with rare genetic diseases: analysis of a large Italian cohort;European Journal of Medical Genetics;2021-07

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