Associated Papers
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
MutPred Splice: machine learning-based prediction of exonic variants that disrupt splicing.
Mort M et al.
Genome Biology, 2014
24451234 (PubMed )
Supplement: gb-2014-15-1-r19-S1.pdf
A novel silent mutation in the NSDHL gene causing CHILD syndrome as a result of aberrant splicing.
Saito M et al.
The British Journal of Dermatology, 2008
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
Select a paper to view details