Associated Papers
Comprehensive survey of disease-causing missense mutations of the cholesterol synthesis enzyme NSDHL: Low temperature and a chemical chaperone rescue low protein expression of select mutants.
Fenton NM et al.
The Journal of Steroid Biochemistry and Molecular Biology, 2025
Etiological identification of recurrent male fatality due to a novel NSDHL gene mutation using trio whole-exome sequencing: A rare case report and literature review.
Zhuang J et al.
Molecular Genetics & Genomic Medicine, 2023
Mild clinical presentation of a patient with a mutation in the NSDHL gene.
Ormerod E et al.
Clinical and Experimental Dermatology, 2019
The role of abnormalities in the distal pathway of cholesterol synthesis in the Congenital Hemidysplasia with Ichthyosiform erythroderma and Limb Defects (CHILD) syndrome.
Seeger MA et al.
Biochimica Et Biophysica Acta, 2014
Brain and cerebellar hemidysplasia in a case with ipsilateral body dysplasia and suspicion of CHILD syndrome.
Schmidt-Sidor B et al.
Folia Neuropathologica, 2008
Mutational spectrum of NSDHL in CHILD syndrome.
Bornholdt D et al.
Journal of Medical Genetics, 2005
A unique point mutation in the NSDHL gene in a Japanese patient with CHILD syndrome.
Murata K et al.
Journal of Dermatological Science, 2003
CHILD Syndrome: Case Report of a Chinese Patient and Literature Review of the NAD[P]H Steroid Dehydrogenase-Like Protein Gene Mutation.
Mi XB et al.
Pediatric Dermatology, 0
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