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
Novel variant in NSDHL gene associated with CHILD syndrome and syndactyly- a case report.
Hettiarachchi D et al.
Bmc Medical Genetics, 2020
Mutational spectrum of NSDHL in CHILD syndrome.
Bornholdt D et al.
Journal of Medical Genetics, 2005
A novel missense mutation of NSDHL in an unusual case of CHILD syndrome showing bilateral, almost symmetric involvement.
König A et al.
Journal of the American Academy of Dermatology, 2002
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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