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Article

Mutational spectrum of NSDHL in CHILD syndrome.

Journal of medical genetics - 1 Feb 2005

Bornholdt D, König A, Happle R, Leveleki L, Bittar M, Danarti R, Vahlquist A, Tilgen W, Reinhold U, Poiares Baptista A, Grosshans E, Vabres P, Niiyama S, Sasaoka K, Tanaka T, Meiss A L, Treadwell P A, Lambert D, Camacho F, Grzeschik K-H

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Topics

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Share to 3-Hydroxysteroid Dehydrogenases
Share to Ichthyosis
Share to Limb Deformities, Congenital

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Mutation, Missense

Share to Point Mutation

Share to Sequence Alignment

Share to Sequence Deletion

Source

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Identifiers

PMID: 15689440
DOI: 10.1136/jmg.2004.024448
PMCID: PMC1735983

Genes

NSDHL

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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