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
CHILD syndrome with minimal limb abnormalities.
Noguera-Morel L et al.
Journal of the European Academy of Dermatology and Venereology : Jeadv, 2016
Targeting epidermal lipids for treatment of Mendelian disorders of cornification.
Kiritsi D et al.
Orphanet Journal of Rare Diseases, 2014
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
Embryonic left-right separation mechanism allows confinement of mutation-induced phenotypes to one lateral body half of bilaterians.
Ma K
American Journal of Medical Genetics. Part A, 2013
Disorders of sterol synthesis: beyond Smith-Lemli-Opitz syndrome.
Herman GE et al.
American Journal of Medical Genetics. Part C, Seminars in Medical Genetics, 2012
Mutational spectrum of NSDHL in CHILD syndrome.
Bornholdt D et al.
Journal of Medical Genetics, 2005
Localization of mammalian NAD(P)H steroid dehydrogenase-like protein on lipid droplets.
Ohashi M et al.
The Journal of Biological Chemistry, 2003
Mutations in the NSDHL gene, encoding a 3beta-hydroxysteroid dehydrogenase, cause CHILD syndrome.
König A et al.
American Journal of Medical Genetics, 2000
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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