Disease: Congenital ectodermal dysplasia with hearing loss
- 50 Years Ago in TheJournalofPediatrics: Molecular Diagnostics Determine Underlying Genetic Etiologies for Well-Described Clinical Syndromes
- A genotype-phenotype correlation in split-hand/foot malformation type 1: further refinement of the phenotypic subregions within the 7q21.3 locus
- A rare cause of pancreatic insufficiency; Johanson Blizzard Syndrome
- A rare connexin 26 mutation in a patient with a forme fruste of keratitis-ichthyosis-deafness (KID) syndrome
- Alu-mediated deletion of PIGL in a Patient with CHIME syndrome
- Anophthalmia in fronto-facial-nasal dysplasia
- Antibody gene transfer treatment drastically improves epidermal pathology in a keratitis ichthyosis deafness syndrome model using male mice
- Association of hearing loss with PHACE syndrome
- Biallelic deletion in a minimal CAPN15 intron in siblings with a recognizable syndrome of congenital malformations and developmental delay
- Bilateral cochlear implantation in a child with Johanson Blizzard Syndrome
- Bound Waters Mediate Binding of Diverse Substrates to a Ubiquitin Ligase
- Case report. Johanson-Blizzard syndrome: a report of gender-discordant twins with a novel UBR1 mutation
- Child with a mild CHIME syndrome phenotype and carrying a novel p.(Asp52Asn) PIGL pathogenic variant in association with the previously reported p.(Leu167Pro) variant: A case report
- CHInese Medicine NeuroAiD Efficacy on Stroke Recovery - Extension Study (CHIMES-E): A Multicenter Study of Long-Term Efficacy
- Cicatricial external auditory canal stenosis caused by ectodermal dysplasia: Rapp-Hodgkin syndrome
- Ciliopathy--cause of several peculiar syndromes
- Classification of aplasia cutis congenita: a 25-year review of cases presenting to a tertiary paediatric dermatology department
- Clinical utility gene card for: Johanson-Blizzard syndrome
- Clouston syndrome with heterozygous GJB6 mutation p.Ala88Val and GJB2 variant p.Val27Ile revealing mild sensorineural hearing loss and photophobia
- Co-occurrence of severe Goltz-Gorlin syndrome and pentalogy of Cantrell - Case report and review of the literature
- Congenital atrichia and hypotrichosis
- Congenital diaphragmatic hernia and early lethality in PIGL-related disorder
- Congenital Hypopigmentary Disorders with Multiorgan Impairment: A Case Report and an Overview on Gray Hair Syndromes
- Connexin 26 (GJB2) mutations as a cause of the KID syndrome with hearing loss
- Connexin 26 (GJB2) mutations, causing KID Syndrome, are associated with cell death due to calcium gating deregulation
- Dandy-Walker malformation in patients with KID syndrome associated with a heterozygote mutation (p.Asp50Asn) in the GJB2 gene encoding connexin 26
- Deafness at Wiskott-Aldrich-syndrome
- Dental issues in lacrimo-auriculo-dento-digital syndrome: An autosomal dominant condition with clinical and genetic variability
- Development and characterization of a mouse with profound biotinidase deficiency: a biotin-responsive neurocutaneous disorder
- Diffuse Palmoplantar Keratoderma, Onychodystrophy, universal Hypotrichosis and Cysts
- Do you know this syndrome?
- Ear nose throat manifestations in hypoidrotic ectodermal dysplasia
- Ectodermal dysplasia and cholesteatoma: A cross-sectional analysis of otologic issues
- Ectodermal dysplasia with alopecia, onychodysplasia, hypohidrosis, keratoderma, abnormal teeth and deafness
- Ectodermal dysplasia: otolaryngologic evaluation of 23 cases
- Ectrodactyly-ectodermal dysplasia-clefting syndrome presenting with bilateral choanal atresia and rectal stenosis
- Ectrodactyly, ectodermal dysplasia, cleft lip, and palate (EEC syndrome)
- EEC syndrome with a de novo mutation (c.953g > a) on exon 7 of P63 gene: a case report
- Eponym: Johanson-Blizzard syndrome
- Establishment of a human induced pluripotent stem cell line (SDQLCHi079-A) from a patient with Johanson-Blizzard syndrome carrying heterozygous mutation in UBR1 gene
- Evaluation of Fundus Blood Flow Perfusion in Patients with Diabetic Retinopathy after PPV with Fundus Color Doppler Based on Big Data Mining
- Expanding the mutational spectrum in Johanson-Blizzard syndrome: identification of whole exon deletions and duplications in the UBR1 gene by multiplex ligation-dependent probe amplification analysis
- Extending the phenotypic spectrum of keratitis-ichthyosis-deafness syndrome: report of a patient with GJB2 (G12R) Connexin 26 mutation and unusual clinical findings
- Facial clefting and oroauditory pathway manifestations in ankyloblepharon-ectodermal defects-cleft lip/palate (AEC) syndrome
- Genitopatellar syndrome, sensorineural hearing loss, and cleft palate
- Hearing loss in PHACE syndrome: clinical and radiologic findings
- Heterozygous MAP3K20 variants cause ectodermal dysplasia, craniosynostosis, sensorineural hearing loss, and limb anomalies
- Hypothalamo-pituitary insufficiency associated with ectrodactyly-ectodermal dysplasia-clefting syndrome
- INGUINAL HERNIAS IN ENZYGOTIC DEAFMUTE TWINS AS A SIGN OF UNDIFFERENTIATED DYSPLASIA OF CONNECTIVE TISSUE
- Ipsilateral café-au-lait macules, deafness, and pituitary microadenoma in a 35-year-old woman
- Johanson-Blizzard syndrome
- Johanson-Blizzard syndrome
- Johanson-blizzard syndrome
- Johanson-Blizzard syndrome presenting as chronic diarrhoea
- Johanson-Blizzard syndrome with associated urogenital anomalies
- Johanson-Blizzard syndrome: audiological features and results of cochlear implantation
- Johanson-Blizzard syndrome: dental findings and management
- Johanson-Blizzard syndrome: expanding the phenotype of exocrine pancreatic insufficiency
- Johanson-Blizzard syndrome: hepatic and hematological features with novel genotype
- KIAA0753-related skeletal ciliopathy: a ninth case, extending the phenotype and reporting a novel variant
- Long-term follow-up of patients with extensive segmental infantile hemangioma of the cervical or facial region: A French single-center prospective study
- Meta-Analysis of <em>Grainyhead-Like</em> Dependent Transcriptional Networks: A Roadmap for Identifying Novel Conserved Genetic Pathways
- Molecular characterization of a novel, de novo, cryptic interstitial deletion on 19p13.3 in a child with a cutis aplasia and multiple congenital anomalies
- Mutations in the glycosylphosphatidylinositol gene PIGL cause CHIME syndrome
- Mutations in the human UBR1 gene and the associated phenotypic spectrum
- Natural history of PHACE syndrome: A survey of adults with PHACE
- Neurocristopathies: Enigmatic Appearances of Neural Crest Cell-derived Abnormalities
- Neurofibromatosis type II: a rare neurocutaneous syndrome
- Novel UBR1 gene mutation in a patient with typical phenotype of Johanson-Blizzard syndrome
- Oblique facial clefts in Johanson-Blizzard syndrome
- Ocular phenotype and therapeutic interventions in keratitis-ichthyosis-deafness (KID) syndrome
- Oral squamous cell carcinoma in a patient with keratitis-ichthyosis-deafness syndrome: a rare case
- Pancreatic Malnutrition in Children
- Pancytopenia from severe cobalamin (vitamin B12) deficiency in Johanson-Blizzard syndrome
- Persistent stapedial artery in PHACE syndrome
- PHACE syndrome and hearing loss
- PHACE syndrome in a preterm infant
- PHACES-like syndrome with TMEM260 compound heterozygous variants
- Phakomatosis pigmentovascularis type II b with bilateral hearing impairment
- Phenotype in a patient with p.D50N mutation in GJB2 gene resemble both KID and Clouston syndromes
- Phenotypic variability in gap junction syndromic skin disorders: experience from KID and Clouston syndromes' clinical diagnostics
- Physiological functions and clinical implications of the N-end rule pathway
- Quantitative assessment of craniofacial morphology in Johanson-Blizzard syndrome
- Rare and unusual case of familial focal dermal hypoplasia (Goltz syndrome) presenting to otolaryngology in the UK
- Recurrent Johanson-Blizzard syndrome in a triplet pregnancy complicated by urethral obstruction sequence: a clinical, molecular, and immunohistochemical approach
- Report of a case with Johanson-Blizzard syndrome and literatures review
- Reversible profound sensorineural hearing loss due to propranolol sensitive hemangioma in an infant with PHACE syndrome
- Role of p63 and the Notch pathway in cochlea development and sensorineural deafness
- Severe forms of Johanson-Blizzard syndrome caused by two novel compound heterozygous variants in UBR1: Clinical manifestations, imaging findings and molecular genetics
- Significant ophthalmoarthropathy associated with ectodermal dysplasia in a child with Marshall-Stickler overlap: a case report
- Skull base tumor in a patient with phacomatosis pigmentovascularis
- The chromatin remodeling protein CHD7, mutated in CHARGE syndrome, is necessary for proper craniofacial and tracheal development
- The Clouston syndrome mutation connexin30 A88V leads to hyperproliferation of sebaceous glands and hearing impairments in mice
- Treatment of otorhinolaryngological manifestations of three rare genetic syndromes: Branchio-Oculo-Facial (BOF), Ectrodactyly Ectodermal dysplasia Clefting (EEC) and focal dermal hypoplasia (Goltz syndrome)
- TSPEAR variants are primarily associated with ectodermal dysplasia and tooth agenesis but not hearing loss: A novel cohort study
- Two novel UBR1 gene mutations ın a patient with Johanson Blizzard Syndrome: A mild phenotype without mental retardation
- Ubiquitin ligases of the N-end rule pathway: assessment of mutations in UBR1 that cause the Johanson-Blizzard syndrome
- UBR7 functions with UBR5 in the Notch signaling pathway and is involved in a neurodevelopmental syndrome with epilepsy, ptosis, and hypothyroidism
- Use of bevacizumab (Avastin) in KID syndrome: case report
- Usher syndrome in a patient with Ellis-van Creveld syndrome