A de novo hexokinase 1 ( <scp> <i>HK1</i> </scp> ) variant presenting as <scp>Boucher–Neuhäuser</scp> syndrome-Reference-Cited by-同舟云学术

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A de novo hexokinase 1 ( HK1 ) variant presenting as Boucher–Neuhäuser syndrome

Published:2022-12-21 Issue:2 Volume:191 Page:624-629
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:

Peretz Ryan H.¹^ORCID,Zein Wadih M.²,Hufnagel Robert B.²,Ku Christine³,Godfrey Rena¹,Wolfe Lynne¹,Adams David¹,Gahl William¹,Toro Camilo¹

Affiliation:

1. Undiagnosed Diseases Program National Human Genome Research Institute, National Institutes of Health Bethesda Maryland USA

2. National Eye Institute, National Institutes of Health Bethesda Maryland USA

3. Department of Ophthalmology Kaiser Permanente Medical Center Santa Rosa California USA

Funder

National Human Genome Research Institute

National Institutes of Health

Publisher

Wiley

Subject

Genetics (clinical),Genetics

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1002/ajmg.a.63045

Reference20 articles.

1. FAMI1,IAL ATAXIA, HYPOGONADISM AND RETINAL DEGENERATION

2. The National Institutes of Health Undiagnosed Diseases Program: insights into rare diseases

3. The NIH Undiagnosed Diseases Program and Network: Applications to modern medicine

4. The NIH Undiagnosed Diseases Program

5. Mammalian hexokinase 1: Evolutionary conservation and structure to function analysis

Cited by 2 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. Two case reports of a novel missense mutation in the PNPLA6 gene in two siblings with chorioretinal dystrophy, hypogonadotropic hypogonadism, and cerebellar ataxia;Molecular Biology Reports;2024-04-29

2. Clinical, Neuroimaging, and Metabolic Footprint of the Neurodevelopmental Disorder Caused by Monoallelic HK1 Variants;Neurology Genetics;2024-04

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