• A compound heterozygous mutation of the SPINK5 gene in a Taiwanese boy with Netherton syndrome
• A familial case of Keratitis-Ichthyosis-Deafness (KID) syndrome with the GJB2 mutation G45E
• A novel missense mutation in the NSDHL gene identified in a Lithuanian family by targeted next-generation sequencing causes CK syndrome
• A Novel non-sense Mutation in Keratin 10 Causes a Familial Case of Recessive Epidermolytic Ichthyosis
• A novel NSDHL variant in CHILD syndrome with gastrointestinal manifestations and localized skin involvement
• Adult presentation of X-linked Conradi-Hünermann-Happle syndrome
• Arabidopsis 3β-Hydroxysteroid Dehydrogenases/C4-Decarboxylases Are Essential for the Pollen and Embryonic Development
• Brain and cerebellar hemidysplasia in a case with ipsilateral body dysplasia and suspicion of CHILD syndrome
• Child Syndrome
• CHILD Syndrome
• CHILD syndrome avant la lettre
• CHILD syndrome in a boy
• Cholesterol metabolism deficiency
• Congenital homolateral epidermal hyperplasia and hypoplastic hemidysplasia (splitting of the Solomon's syndrome) (author's transl)
• Cutaneous mosaicism: Special considerations for women
• Donor dominance cures CHILD nevus
• Erythroderma revealing IPEX syndrome
• 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
• Expression profile of NSDHL in human peripheral tissues
• Gene targeting at the mouse cytokeratin 10 locus: severe skin fragility and changes of cytokeratin expression in the epidermis
• Genetic analysis of a severe case of Netherton syndrome and application for prenatal testing
• Germline mosaicism in keratitis-ichthyosis-deafness syndrome: pre-natal diagnosis in a familial lethal form
• Ichthyosis in the Neonatal Setting
• Knocking-in the R142C mutation in transglutaminase 1 disrupts the stratum corneum barrier and postnatal survival of mice
• Lethal autosomal recessive epidermolytic ichthyosis due to a novel donor splice-site mutation in KRT10
• Lethal congenital bullous ichthyosiform erythroderma
• Lethal congenital erythroderma: a newly recognised genetic disorder
• Lethal, neonatal ichthyosis with increased proteolytic processing of filaggrin in a mouse model of Netherton syndrome
• Mutations in the human SC4MOL gene encoding a methyl sterol oxidase cause psoriasiform dermatitis, microcephaly, and developmental delay
• Netherton syndrome: disease expression and spectrum of SPINK5 mutations in 21 families
• Novel variant in NSDHL gene associated with CHILD syndrome and syndactyly- a case report
• The CHILD nevus: a distinct skin disorder
• The CHILD syndrome. Congenital hemidysplasia with ichthyosiform erythroderma and limb defects
• The Harlequin Baby syndrome. A new case
• X-linked dominant chondrodysplasia punctata (author's transl)
• X-linked dominant chondrodysplasia punctata: an osteocutaneous syndrome
• X-linked dominant chondrodysplasia punctata. Review of literature and report of a case