Disease: Congenital hemidysplasia with ichtyosiform erythroderma and limbs defects
- A novel missense mutation in the NSDHL gene identified in a Lithuanian family by targeted next-generation sequencing causes CK syndrome
- A novel NSDHL variant in CHILD syndrome with gastrointestinal manifestations and localized skin involvement
- A novel X-chromosomal microdeletion encompassing congenital hemidysplasia with ichthyosiform erythroderma and limb defects
- A rare case of hepatoblastoma in a syndromic child with a de novo germline JAG1 mutation
- Abnormal barrier function in the pathogenesis of ichthyosis: therapeutic implications for lipid metabolic disorders
- Abnormal lamellar granules in a case of CHILD syndrome
- An excellent response to topical therapy of four congenital hemidysplasia with ichthyosiform erythroderma and limb defects syndrome patients with an increased concentration of simvastatin ointment
- Another CHILD syndrome with xanthomatous pattern
- Bilateral verruciform lesions: A new CHILD syndrome presentation
- Brain and cerebellar hemidysplasia in a case with ipsilateral body dysplasia and suspicion of CHILD syndrome
- Brain-lung-thyroid syndrome in a newborn with deletion 14q12-q21.1
- Cardiac anomalies in microtia patients at a tertiary pediatric care center
- Case of unilateral epidermal nevi without extracutaneous anomalies
- CHILD syndrome
- Child Syndrome
- CHILD Syndrome
- CHILD syndrome avant la lettre
- CHILD syndrome caused by a deletion of exons 6-8 of the NSDHL gene
- CHILD syndrome in a boy
- CHILD syndrome in a Malaysian adult with identification of a novel heterozygous missense mutation NSDHL c.602A>G
- CHILD syndrome mimicking verrucous nevus in a Chinese patient responded well to the topical therapy of compound of simvastatin and cholesterol
- CHILD syndrome with mild skin lesions: histopathologic clues for the diagnosis
- CHILD syndrome with minimal limb abnormalities
- CHILD syndrome with thrombocytosis and congenital dislocation of hip: A case report from India
- CHILD syndrome: A modified pathogenesis-targeted therapeutic approach
- CHILD syndrome: analysis of abnormal keratinization and ultrastructure
- CHILD Syndrome: Case Report of a Chinese Patient and Literature Review of the NAD[P]H Steroid Dehydrogenase-Like Protein Gene Mutation
- CHILD syndrome: effective treatment of ichthyosiform naevus with oral and topical ketoconazole
- CHILD syndrome: lack of expression of epidermal differentiation markers in lesional ichthyotic skin
- CHILD syndrome: successful treatment of skin lesions with topical lovastatin and cholesterol lotion
- CHILD Syndrome: Successful Treatment of Skin Lesions with Topical Simvastatin/Cholesterol Ointment--A Case Report
- CHILD syndrome. Phenotypic dichotomy in eicosanoid metabolism and proliferative rates among cultured dermal fibroblasts
- Cholesterol metabolism deficiency
- Cholesterol precursors and facial clefting
- Common Skin Conditions in Children: Noninfectious Rashes
- Congenital hemidysplasia with ichthyosiform naevus and limb defects (CHILD) syndrome without hemidysplasia
- Congenital hemidysplasia with ichthyosiform nevus and limb defects syndrome: a rare case without hemidysplasia and limb defects
- Cutaneous mosaicism: Special considerations for women
- Disorders of cholesterol metabolism and their unanticipated convergent mechanisms of disease
- Donor dominance cures CHILD nevus
- Epidermal growth factor receptors in genetically induced hyperproliferative skin disorders
- Epidermal Nevi and Related Syndromes -- Part 1: Keratinocytic Nevi
- 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
- Evaluating the challenges and needs of parents caring for children with Williams syndrome: A preliminary study from Poland
- Expression profile of NSDHL in human peripheral tissues
- Human malformation syndromes due to inborn errors of cholesterol synthesis
- Hyperkeratotic Nodule on the Knee in a Patient With KID Syndrome
- Identification of NSDHL mutations associated with CHILD syndrome in oral verruciform xanthoma
- Inherited ichthyosis: Syndromic forms
- Investigation of (Epi)genetic causes in syndromic short children born small for gestational age
- Is it all MIS-C? Unusual findings in a series of nine German patients with multi-system inflammatory syndrome in children after SARS-CoV-2 infection
- Large deletions in the NSDHL gene in two patients with CHILD syndrome
- Late evolution of giant verruciform xanthoma in the setting of CHILD syndrome
- Living with inborn errors of cholesterol biosynthesis: lessons from adult patients
- Malformation syndromes caused by disorders of cholesterol synthesis
- Maternal Supplementation of Probiotics, Prebiotics or Postbiotics to Prevent Offspring Metabolic Syndrome: The Gap between Preclinical Results and Clinical Translation
- Mild clinical presentation of a patient with a mutation in the NSDHL gene
- Multiple verruciform xanthomas in the setting of congenital hemidysplasia with ichthyosiform erythroderma and limb defects syndrome
- Multisystem inflammatory syndrome in neonates associated with SARS-CoV-2 infection, a different entity?
- Musculoskeletal abnormalities and a novel genomic variant in an adult patient with CHILD syndrome: a case report
- Novel <em>NSDHL</em> gene variant for congenital hemidysplasia with ichthyosiform erythroderma and limb defects (CHILD) syndrome
- Novel NSDHL gene variant for congenital hemidysplasia with ichthyosiform erythroderma and limb defects (CHILD) syndrome
- Novel variant in NSDHL gene associated with CHILD syndrome and syndactyly- a case report
- Optic nerve findings in CHILD syndrome
- Oral manifestations of multisystemic inflammatory syndrome in children (MIS-C) and Kawasaki disease associated to COVID-19: A systematic review
- Pathogenesis-based therapies in ichthyoses
- Pathogenesis-based therapy reverses cutaneous abnormalities in an inherited disorder of distal cholesterol metabolism
- Pediatric Crohn Disease and Multisystem Inflammatory Syndrome in Children (MIS-C) and COVID-19 Treated With Infliximab
- Percutaneous Bone-Anchored Hearing Implant Surgery: Do Syndromic Children Have More Adverse Perioperative Outcomes?
- Peroxisomal abnormality in fibroblasts from involved skin of CHILD syndrome. Case study and review of peroxisomal disorders in relation to skin disease
- Rapid improvement of skin lesions in CHILD syndrome with topical 5% simvastatin ointment
- REACTIONS TO THE THREATENED LOSS OF A CHILD: A VULNERABLE CHILD SYNDROME. PEDIATRIC MANAGEMENT OF THE DYING CHILD, PART III
- Skin Abnormalities in CHILD Syndrome Successfully Treated with Pathogenesis-based Therapy
- Small intestinal mucosal xanthoma in a patient with CHILD syndrome
- Spontaneous and ART-induced large offspring syndrome: similarities and differences in DNA methylome
- Squamous cell carcinoma arising in CHILD syndrome
- Sterol metabolism disorders and neurodevelopment-an update
- THE "FIGURE OF EIGHT" SYNDROME IN SCHOOL CHILDREN AND YOUNG ADULTS AND ITS DIFFERENTIAL DIAGNOSIS. TOMOGRAPHIC STUDIES
- The battered-child syndrome
- THE BATTERED-CHILD SYNDROME
- The CHILD syndrome. Congenital hemidysplasia with ichthyosiform erythroderma and limb defects
- The CHILD syndrome. Histologic and ultrastructural studies
- The CHILD-syndrome--congenital hemidysplasia with ichthyosiform erythroderma and limb defects. A case report
- THE CUNA MOON-CHILD SYNDROME
- The expression of the 27-kd heat shock protein in keratinization disorders: an immunohistological study
- The good choice of an acronym: CHILD (congenital hemidysplasia with ichthyosiform erythroderma and limb defects) syndrome or LIVEN (linear inflammatory verrucous epidermal nevus) syndrome?
- The impact of parental psychological distress on child behavior issues in hospitalized children
- The prevalence, risk of premature births, mortality and causes of death of cleft lip with or without palate in South Korea: a nationwide population-based cohort study
- The role of abnormalities in the distal pathway of cholesterol synthesis in the Congenital Hemidysplasia with Ichthyosiform erythroderma and Limb Defects (CHILD) syndrome
- The use of clinical molecular and genetic tests in forensic medical opinions
- Topical Cholesterol/Simvastatin Gel for the Treatment of CHILD Syndrome in an Adolescent
- Two distinct syndromic children with T-acute lymphoblastic leukemia: Noonan syndrome and Sotos syndrome
- Tympanoxyloid verruciform xanthoma is a distinct feature of CHILD nevus
- Unilateral Erythematous Lesions with Wax-like Scaling and Limb Abnormalities: A Quiz
- Use of Topical Glycolic Acid Plus a Lovastatin-Cholesterol Combination Cream for the Treatment of Autosomal Recessive Congenital Ichthyoses
- Verruciform xanthoma: a special epidermal nevus
- Verrucous hyperkeratosis with predominant involvement of the left side of the body and concomitant onychodystrophy in a 17-year-old girl
- Vulnerable child syndrome in everyday paediatric practice: A condition deserving attention and new perspectives
- Vulnerable Child Syndrome in the International Community
- Vulnerable child syndrome in the neonatal intensive care unit: A review and a new preventative intervention with feasibility and parental satisfaction data