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NSDHL gene

Known as: NAD(P) dependent steroid dehydrogenase-like, XAP104, NAD(P)H STEROID DEHYDROGENASE-LIKE PROTEIN 
National Institutes of Health

Papers overview

Semantic Scholar uses AI to extract papers important to this topic.
2018
2018
Genetic variant in the NSDHL gene in a cat with multiple congenital lesions resembling inflammatory linear verrucous epidermal nevi.
BACKGROUND The feline counterpart of human inflammatory linear verrucous epidermal nevus (ILVEN) has been described; however, the… 
2015
2015
A novel missense mutation in the NSDHL gene identified in a Lithuanian family by targeted next‐generation sequencing causes CK syndrome
The NSDHL gene encodes 3β‐hydroxysteroid dehydrogenase involved in one of the later steps of the cholesterol biosynthetic pathway… 
2009
2009
CHILD syndrome: the NSDHL gene and its role in CHILD syndrome, a rare hereditary disorder
Background  CHILD syndrome, a rare hereditary disorder of keratinization (MIM 308050, 300275), is the acronym proposed by Happle… 
2009
2009
Developmental expression pattern of the cholesterogenic enzyme NSDHL and negative selection of NSDHL-deficient cells in the heterozygous Bpa(1H)/+ mouse.
2008
2008
A novel silent mutation in the NSDHL gene causing CHILD syndrome as a result of aberrant splicing
CHILD (congenital hemidysplasia with ichthyosiform naevus and limb defects) syndrome (OMIM 308050) is an X-linked dominant male… 
2006
2006
Analysis of Nsdhl-deficient embryos reveals a role for Hedgehog signaling in early placental development.
The X-linked Nsdhl gene encodes a sterol dehydrogenase involved in cholesterol biosynthesis. Mutations in this gene cause the… 
2005
2005
CHILD Syndrome Caused by a Deletion of Exons 6–8 of the NSDHL Gene
The X-linked dominant CHILD syndrome (congenital hemidysplasia with ichthyosiform nevus and limb defects) is a rare developmental… 
2003
2003
Left‐sided CHILD syndrome caused by a nonsense mutation in the NSDHL gene
Congenital hemidysplasia with ichthyosiform nevus and limb defects (CHILD) syndrome is a rare X‐linked dominant malformation… 
Highly Cited
2002
Highly Cited
2002
A novel missense mutation of NSDHL in an unusual case of CHILD syndrome showing bilateral, almost symmetric involvement.
The CHILD syndrome (MIM 308050), an acronym for congenital hemidysplasia with ichthyosiform nevus and limb defects, is an X… 
Review
2000
Review
2000
Mutations in the NSDHL gene, encoding a 3beta-hydroxysteroid dehydrogenase, cause CHILD syndrome.
We report for the first time that CHILD syndrome (MIM 308050), an X-linked dominant, male-lethal trait characterized by an… 
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