Case presentation The proband was a 9-month-old twin (T2) girl with a healthy twin sister (T1) of Sri Lankan origin born to non-consanguineous parents. [bmcmedgenet.biomedcentral.com]

In the present study, we have investigated the subcellular localization of tagged proteins encoded by wild-type and selected mutant murine Nsdhl alleles using confocal microscopy. [pubmed.ncbi.nlm.nih.gov]

CHILD syndrome: successful treatment of skin lesions with topical simvastatin/cholesterol ointment--a case report. Pediatr Dermatol. 2015;32:e145–7. [ncbi.nlm.nih.gov]

In EGFR-driven human cancer cells, treatment with the potent NSDHL inhibitor enhanced the antitumor effect of an EGFR kinase inhibitor. [pubmed.ncbi.nlm.nih.gov]

Table 1 Comparison of clinical data of missense variants in NSDHL gene Full size table Fig. 1 a–Proband at 9 months with ipsilateral ichthyosiform erythroderma and Hypoplasia of arm and hand. b- Proband after 1 year, following treatment. [bmcmedgenet.biomedcentral.com]

Each of the identified mutations likely prevents the production of any functional NSDHL enzyme, which disrupts the normal synthesis of cholesterol within cells. [medlineplus.gov]