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

Ryan H Peretz1, Wadih M Zein2, Robert B Hufnagel2

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

American Journal of Medical Genetics. Part A
|December 21, 2022
PubMed

Keywords:
Boucher-Neuhäuser syndromecerebellar ataxiacerebellar atrophychorioretinal dystrophyhypogonadotropic hypogonadism

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