Discover Community Create You

Loading publication...

Noodle always counts identifier-free feature events for service operation. With your permission, Google Analytics can also estimate audience and engagement. Search text, publication identifiers, cookies, IP addresses and browser fingerprints are never included in Noodle's first-party event counters.

Privacy details

Article

CHILD syndrome: A modified pathogenesis-targeted therapeutic approach.

American journal of medical genetics. Part A - 1 Mar 2018

Bergqvist Christina, Abdallah Bilal, Hasbani Divina-Justina, Abbas Ossama, Kibbi Abdul Ghani, Hamie Lamiaa, Kurban Mazen, Rubeiz Nelly

Abstract excerpt

Congenital Hemidysplasia with Ichthyosiform nevus and Limb Defects (CHILD syndrome) is a rare X-linked dominant genodermatosis caused by mutations in the NAD(P) dependent steroid dehydrogenase-like protein gene. Its defect leads to accumulation of toxic metabolic intermediates upstream from the pathway block and to the deficiency of bulk cholesterol, probably leading to altered keratinocyte membrane function,...

Read the complete abstract on PubMed

Topics

Share this publication in a Topic to start or enrich a Post.

Share to 3-Hydroxysteroid Dehydrogenases
Share to Abnormalities, Multiple

Methodology Data sources Editorial policy Privacy Delete account & data About Contact Helena Bioinformatics

Share to Cholesterol

Share to Genetic Diseases, X-Linked

Share to Ichthyosiform Erythroderma, Congenital

Share to Limb Deformities, Congenital

Share to Lovastatin

Source

Identifiers

PMID: 29392821
DOI: 10.1002/ajmg.a.38619

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.

Related research

Semantic proximity does not establish scientific evidence. Graph snapshot: 2026-09-29.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

CHILD syndrome: A modified pathogenesis-targeted therapeutic approach.PMID 29392821Read ↗

Pathogenesis-based therapy reverses cutaneous abnormalities in an inherited disorder of distal cholesterol metabolism.Semantic proximity Read ↗

Pathogenesis-based therapies in ichthyoses.Semantic proximity Read ↗

The role of abnormalities in the distal pathway of cholesterol synthesis in the Congenital Hemidysplasia with Ichthyosiform erythroderma and Limb Defects (CHILD) syndrome.Semantic proximity Read ↗

Treatments for Non-Syndromic Inherited Ichthyosis, Including Emergent Pathogenesis-Related Therapy.Semantic proximity Read ↗

Abnormal barrier function in the pathogenesis of ichthyosis: therapeutic implications for lipid metabolic disorders.Semantic proximity Read ↗

Pathogenesis of the cutaneous phenotype in inherited disorders of cholesterol metabolismSemantic proximity Read ↗

Mutations in the NSDHL gene, encoding a 3beta-hydroxysteroid dehydrogenase, cause CHILD syndrome.Semantic proximity Read ↗

Current Strategies for the Gene Therapy of Autosomal Recessive Congenital Ichthyosis and Other Types of Inherited Ichthyosis.Semantic proximity Read ↗

CHILD syndrome caused by deficiency of 3?-hydroxysteroid-?8, ?7-isomeraseSemantic proximity Read ↗

Novel NSDHL gene variant for congenital hemidysplasia with ichthyosiform erythroderma and limb defects (CHILD) syndrome.Semantic proximity Read ↗

CHILD syndrome: effective treatment of ichthyosiform naevus with oral and topical ketoconazole.Semantic proximity Read ↗

Topical enzyme-replacement therapy restores transglutaminase 1 activity and corrects architecture of transglutaminase-1-deficient skin grafts.Semantic proximity Read ↗

⌁Select a neighboring publication to make it the new centre.