Cargando…

A case of keratitis, ichthyosis, and deafness syndrome with rickets

Detalles Bibliográficos
Autores principales:	Bhattarai, Sabina, Pandey, Arti S., Bastakoti, Sherya, Soderkvist, Peter, Bhusal, Mohan
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	Elsevier 2019
Materias:	Case Report
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6928269/ https://www.ncbi.nlm.nih.gov/pubmed/31890828 http://dx.doi.org/10.1016/j.jdcr.2019.10.024

Ejemplares similares

Keratitis-ichthyosis-deafness syndrome and hidradenitis suppurativa
por: Travis, Lisa, et al.
Publicado: (2023)

Keratitis-Ichthyosis-Deafness syndrome: A rare congenital disorder
por: Shanker, Vinay, et al.
Publicado: (2012)

Cochlear Implantation in Patients with Keratitis-Ichthyosis-Deafness Syndrome: A Report of Two Cases
por: Gumus, Birgul, et al.
Publicado: (2017)

Lamellar Ichthyosis with Rickets
por: Ali, Raafia, et al.
Publicado: (2013)

Keratitis–ichthyosis–deafness syndrome: first affected family reported in the Middle East
por: Al Fahaad, Hamad
Publicado: (2014)

Dental Treatments under the General Anesthesia in a Child with Keratitis, Ichthyosis, and Deafness Syndrome
por: Derelioglu, Sera Sımsek, et al.
Publicado: (2013)

Progressive Deformity of the Lower Limbs in a Patient with KID (Keratitis-Ichthyosis-Deafness) Syndrome
por: Kozhevnikov, Oleg, et al.
Publicado: (2020)

Connexin 26 (GJB2) mutation in an Argentinean patient with keratitis-ichthyosis-deafness (KID) syndrome: a case report
por: Dalamón, Viviana Karina, et al.
Publicado: (2016)

Ichthyosis Associated with Rickets in Two Indian Children
por: Kothari, Dimple, et al.
Publicado: (2013)

A Case of Lamellar Ichthyosis with Rickets and Carcinoma of the Hypopharynx
por: Bubna, Aditya Kuamr, et al.
Publicado: (2014)

A novel homozygous mutation of GJB2—A new variant of keratitis-ichthyosis-deafness syndrome?
por: Hamadah, Issam, et al.
Publicado: (2019)

Keratitis-ichthyosis-deafness Syndrome with Heterozygous p.D50N in the GJB2 Gene in Two Serbian Adult Patients
por: Kalezić, T, et al.
Publicado: (2023)

Visual impairment reversal with oral acitretin therapy in keratitis-ichthyosis-deafness (KID) syndrome
por: Wolfe, Christopher M., et al.
Publicado: (2017)

Aberrant Cx26 hemichannels and keratitis-ichthyosis-deafness syndrome: insights into syndromic hearing loss
por: Sanchez, Helmuth A., et al.
Publicado: (2014)

Aberrant connexin26 hemichannels underlying keratitis-ichthyosis-deafness syndrome are potently inhibited by mefloquine
por: Levit, Noah A., et al.
Publicado: (2014)

Heterozygous p.Asp50Asn mutation in the GJB2 gene in two Cameroonian patients with keratitis-ichthyosis-deafness (KID) syndrome
por: Wonkam, Ambroise, et al.
Publicado: (2013)

Le Syndrome Kid ou Keratitis-Ichthyosis-Deafness Syndrome: à propos d'un cas
por: Khrifi, Zineb, et al.
Publicado: (2014)

Keratitis-Ichthyosis-Deafness Syndrome, Atypical Connexin GJB2 Gene Mutation, and Peripheral T-Cell Lymphoma: More Than a Random Association?
por: Fozza, Claudio, et al.
Publicado: (2011)

Connexin hemichannel inhibition ameliorates epidermal pathology in a mouse model of keratitis ichthyosis deafness syndrome
por: Sellitto, Caterina, et al.
Publicado: (2021)

Revertant mosaicism repairs skin lesions in a patient with keratitis-ichthyosis-deafness syndrome by second-site mutations in connexin 26
por: Gudmundsson, Sanna, et al.
Publicado: (2017)

Cx26 keratitis ichthyosis deafness syndrome mutations trigger alternative splicing of Cx26 to prevent expression and cause toxicity in vitro
por: Cook, Jonathan, et al.
Publicado: (2019)

Antibody gene transfer treatment drastically improves epidermal pathology in a keratitis ichthyosis deafness syndrome model using male mice
por: Peres, Chiara, et al.
Publicado: (2023)

The Cx26-G45E mutation displays increased hemichannel activity in a mouse model of the lethal form of keratitis-ichthyosis-deafness syndrome
por: Mese, Gulistan, et al.
Publicado: (2011)

Multiple Scalp Lesions in a Patient with Keratitis, Ichthyosis and Deafness Syndrome Mimicking Metastatic Squamous Cell Carcinoma on 18F-FDG PET/CT
por: Kleis, Margit A., et al.
Publicado: (2016)

Congenital heart disease in harlequin ichthyosis: Case series
por: Verma, Bhupendra, et al.
Publicado: (2019)

Ichthyosis Follicularis, Alopecia, and Photophobia Syndrome
por: Nagakeerthana, Sunder, et al.
Publicado: (2017)

Harlequin ichthyosis: Case report
por: Salehin, Shahrbanoo, et al.
Publicado: (2013)

Keratitis-Ichthyosis-Deafness syndrome-associated Cx26 mutants produce nonfunctional gap junctions but hyperactive hemichannels when co-expressed with wild type Cx43
por: García, Isaac E., et al.
Publicado: (2015)

Ichthyosis hystrix
por: Nayak, Surajit, et al.
Publicado: (2013)

Syndrome Keratitis-Ichtyosis-Deafness (KID) chez un enfant togolais issu d'un mariage consanguin
por: Kombaté, Koussak, et al.
Publicado: (2015)

Ichthyosis Prematurity Syndrome: A Rare Form but Easily Recognizable Ichthyosis
por: Al-Khenaizan, Sultan, et al.
Publicado: (2021)

Mosaic epidermolytic ichthyosis - Case report
por: Mendes, Marcela Sena Teixeira, et al.
Publicado: (2013)

Harlequin ichthyosis: A rare case
por: Shruthi, Belide, et al.
Publicado: (2017)

A CASE OF ADVANCED RICKETS
por: Stewart, H. Hilton
Publicado: (1936)

HYPOPHOSPHATEMIC RICKETS: CASE REPORT
por: Maia, Marta Liliane de Almeida, et al.
Publicado: (2018)

A novel combination of mutations leading to congenital ichthyosis and ichthyosis vulgaris
por: Shearer, Zackary, et al.
Publicado: (2023)

Bilateral viral keratitis in lamellar ichthyosis: A rare ocular manifestation
por: Dhakshini, Lingappan Subramaniam, et al.
Publicado: (2022)

Congenital erythropoietic porphyria: A case series of a rare uroporphyrinogen III synthase gene mutation in Nepalese patients
por: Bhusal, Mohan, et al.
Publicado: (2021)

Intravesical ichthyosis: a rare case report
por: Hermans, T., et al.
Publicado: (2021)

Harlequin ichthyosis newborn: A case report
por: Nikbina, Maryam, et al.
Publicado: (2022)

Cannot write session to /tmp/vufind_sessions/sess_57430o98427is678ad3r7g1jbn