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References from Longitudinal Growth in Children With Epidermal Differentiation Disorders. Local targets link to admitted publications; unresolved targets remain external evidence.
Short stature with congenital ichthyosis.
10.1136/bcr-2015-212610 · 2015 · External reference
Pathophysiologic basis for growth failure in children with ichthyosis: an evaluation of cutaneous ultrastructure, epidermal permeability barrier function, and energy expenditure.
10.1016/j.jpeds.2004.03.052 · 2004 · External reference
Genetics of inherited ichthyoses and related diseases.
10.2340/00015555-3432 · 2020 · External reference
Nonsyndromic epidermal differentiation disorders: a new classification toward pathogenesis-based therapy.
10.1093/bjd/ljaf154 · 2025 · External reference
Syndromic epidermal differentiation disorders: a new classification toward pathogenesis-based therapy.
10.1093/bjd/ljaf123 · 2025 · External reference
[Netherton syndrome: a type of infantile erythroderma with failure to thrive, immune deficiency, rickets: report of 3 cases].
10.1016/j.arcped.2005.04.087 · 2005 · External reference
Netherton syndrome with extensive skin peeling and failure to thrive due to a homozygous frameshift mutation in SPINK5.
10.1159/000084755 · 2005 · External reference
Recessive mutations in AP1B1 cause ichthyosis, deafness, and photophobia.
10.1016/j.ajhg.2019.09.021 · 2019 · External reference
Nutritional status and gastrointestinal structure and function in children with ichthyosis and growth failure.
10.1097/00005176-200402000-00012 · 2004 · External reference
Failure to thrive: an update.
2011 · External reference
Vitamin D deficiency rickets with lamellar ichthyosis.
10.4103/0022-3859.33872 · 2007 · External reference
Malnutrition in children with ichthyosis: recommendations for monitoring from a multidisciplinary clinic experience.
10.1016/j.jaad.2020.06.064 · 2021 · External reference
Complications of ichthyosis beyond the skin.
10.1111/j.1529-8019.2012.01517.x · 2013 · External reference
Lamellar ichthyosis with rickets.
10.12669/pjms.292.3298 · 2013 · External reference
Ichthyosis: clinical manifestations and practical treatment options.
10.2165/11311070-000000000-00000 · 2009 · External reference
Netherton syndrome: a comprehensive literature review of pathogenesis, clinical manifestations, and therapeutic strategies.
2025 · External reference
Kallikrein 5 induces atopic dermatitis-like lesions through PAR2-mediated thymic stromal lymphopoietin expression in Netherton syndrome.
10.1084/jem.20082242 · 2009 · External reference
Ichthyosis molecular fingerprinting shows profound TH17 skewing and a unique barrier genomic signature.
10.1016/j.jaci.2018.03.021 · 2019 · External reference
Body surface area is a predictor of maturity status in school children and adolescents.
10.1186/s12887-023-04222-8 · 2023 · External reference
Impaired cutaneous permeability barrier function, skin hydration, and sphingomyelinase activity in keratin 10 deficient mice.
10.1046/j.1523-1747.2000.00103.x · 2000 · External reference
Skin tape proteomics identifies pathways associated with transepidermal water loss and allergen polysensitization in atopic dermatitis.
10.1016/j.jaci.2020.04.022 · 2020 · External reference
Loss-of-function mutations in the gene encoding filaggrin cause ichthyosis vulgaris.
10.1038/ng1743 · 2006 · External reference
Filaggrin loss-of-function mutations are associated with early-onset eczema, eczema severity and transepidermal water loss at 3 months of age.
10.1111/j.1365-2133.2010.10068.x · 2010 · External reference
Steroid sulfatase deficiency and androgen activation before and after puberty.
10.1210/jc.2015-4101 · 2016 · External reference
Role of cholesterol sulfate in epidermal structure and function: lessons from X-linked ichthyosis.
10.1016/j.bbalip.2013.11.009 · 2014 · External reference
Characterization and expression analysis of the Spink5 gene, the mouse ortholog of the defective gene in Netherton syndrome.
10.1016/j.ygeno.2005.01.001 · 2005 · External reference
Advances in understanding of Netherton syndrome and therapeutic implications.
10.1080/21678707.2020.1857724 · 2020 · External reference
The roles of ABCA12 in epidermal lipid barrier formation and keratinocyte differentiation.
10.1016/j.bbalip.2013.08.009 · 2014 · External reference
ABCA12 maintains the epidermal lipid permeability barrier by facilitating formation of ceramide linoleic esters.
10.1074/jbc.m807377200 · 2008 · External reference
A mouse model of harlequin ichthyosis delineates a key role for Abca12 in lipid homeostasis.
10.1371/journal.pgen.1000192 · 2008 · External reference
The spectrum of manifestations in desmoplakin gene (DSP) spectrin repeat 6 domain mutations: immunophenotyping and response to ustekinumab.
10.1016/j.jaad.2017.10.026 · 2018 · External reference
An analysis of preterm birth rates among 500 kindreds with epidermal differentiation disorders.
10.1093/bjd/ljaf308 · 2025 · External reference
Unresolved reference
2024 · External reference
Unresolved reference
External reference
Unresolved reference
External reference
10.15620/cdc:116027
10.15620/cdc:116027 · External reference
