Cargando…

Isolated recessive nail dysplasia caused by FZD6 mutations: report of three families and review of the literature

Congenital abnormalities of the nail are rare conditions that are most frequently associated with congenital ectodermal syndromes involving several of the epidermal appendages including the skin, teeth, hair and nails. Isolated recessive nail dysplasia (IRND) is much rarer but has recently been reco...

Descripción completa

Detalles Bibliográficos
Autores principales:	Kasparis, C., Reid, D., Wilson, N. J., Okur, V., Cole, C., Hansen, C. D., Bosse, K., Betz, R. C., Khan, M., Smith, F. J. D.
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	John Wiley and Sons Inc. 2016
Materias:	Concise Reports
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5132090/ https://www.ncbi.nlm.nih.gov/pubmed/27786367 http://dx.doi.org/10.1111/ced.12934

Ejemplares similares

A possible founder mutation in FZD6 gene in a Turkish family with autosomal recessive nail dysplasia
por: Saygı, Ceren, et al.
Publicado: (2019)

First Report of a Known Pathogenic Variant in the FZD6 Gene, in an Iranian Family with Recessive Nail Dysplasia: A Case Report
por: MOUSAVI-ASL GERMEH CHESHMEH, Mirsajjad, et al.
Publicado: (2019)

Topical Tretinoin in the Treatment of Nail Psoriasis
por: Grover, Chander, et al.
Publicado: (2022)

A pilot study of intralesional methotrexate injections versus triamcinolone acetonide in patients affected by nail matrix psoriasis
por: Starace, Michela, et al.
Publicado: (2022)

Autosomal recessive progeroid syndrome due to homozygosity for a TOMM7 variant
por: Garg, Abhimanyu, et al.
Publicado: (2022)

Treatment of Gingival Recession: When and How?
por: Imber, Jean-Claude, et al.
Publicado: (2021)

Functional investigation of two simultaneous or separately segregating DSP variants within a single family supports the theory of a dose‐dependent disease severity
por: Vermeer, Mathilde C. S. C., et al.
Publicado: (2022)

Air exchanges, climate change, and severe acute respiratory coronavirus virus 2 (SARS-CoV-2): Results from a survey of the Society of Healthcare Epidemiology of America Research Network (SRN)
por: Burnham, Jason P., et al.
Publicado: (2022)

Are all stem cells equal? Systematic review, evidence map, and meta‐analyses of preclinical stem cell‐based therapies for bronchopulmonary dysplasia
por: Augustine, Sajit, et al.
Publicado: (2019)

Familial Leukodermic Darier Disease with Faun Tail Nevus in a Female Child – An Uncommmon Coexistence
por: Kameti, Swapna, et al.
Publicado: (2021)

High isolation rate of adenovirus serotype 7 from South Korean military recruits with mild acute respiratory disease
por: Jeon, K, et al.
Publicado: (2007)

Hutchinson–Gilford Syndrome (Progeria) with Heterozygous Mutation in the LMNA Gene-ENST00000368300.9 Presenting with Mandibuloacral Dysplasia and Acrogeroid Features—Overlap of Premature Aging Syndromes
por: Muralidharan, Sniya, et al.
Publicado: (2022)

Decrease of FZD4 exon 1 methylation in probands from FZD4-associated FEVR family of phenotypic heterogeneity
por: Liu, Miaomiao, et al.
Publicado: (2022)

Drug-like analogues of the parasitic worm-derived immunomodulator ES-62 are therapeutic in the MRL/Lpr model of systemic lupus erythematosus
por: Rodgers, D T, et al.
Publicado: (2015)

Efficacy and Safety of Intravenous Golimumab in Patients With Ankylosing Spondylitis and Complete Spinal Ankylosis: Results Through Week 52 of the GO-ALIVE Study
por: Deodhar, Atul, et al.
Publicado: (2022)

Developing a diagnosis calculator to estimate the probability of bacterial pneumonia
por: Baghdadi, Jonathan D., et al.
Publicado: (2023)

A retrospective study of 230 consecutive patients hospitalized for presumed travel-related illness (2000–2006)
por: Leroy, H., et al.
Publicado: (2008)

Three-day ceftriaxone versus longer durations of therapy for inpatient treatment of uncomplicated urinary tract infection
por: Elajouz, Balsam, et al.
Publicado: (2022)

Disparities in central line-associated bloodstream infection and catheter-associated urinary tract infection rates: An exploratory analysis
por: Gettler, Erin B., et al.
Publicado: (2023)

Trends in pediatric community-onset Staphylococcus aureus antibiotic susceptibilities over a five-year period in a multihospital health system
por: Prochaska, Erica C., et al.
Publicado: (2023)

Allogeneic mesenchymal stromal cells for cartilage regeneration: A review of in vitro evaluation, clinical experience, and translational opportunities
por: Aldrich, Ellison D., et al.
Publicado: (2021)

Autosomal Recessive Transmission of a Rare KRT74 Variant Causes Hair and Nail Ectodermal Dysplasia: Allelism with Dominant Woolly Hair/Hypotrichosis
por: Raykova, Doroteya, et al.
Publicado: (2014)

Dermatoses in international travellers seen at Bordeaux teaching hospital travel clinic, 2015–2018: a GeoSentinel‐based study
por: Blaizot, R., et al.
Publicado: (2020)

The impact of comorbidities on interleukin-17 inhibitor therapy in psoriatic arthritis: a Danish population-based cohort study
por: Petersen, Magnus B, et al.
Publicado: (2023)

A Case of Familial Trichomegaly with Synophrys in Association with Loose Anagen Syndrome
por: Mathachan, Sinu Rose, et al.
Publicado: (2020)

Infection prevention and antibiotic stewardship program needs and practices in 2021: A survey of the Society for Healthcare Epidemiology of America Research Network
por: Coffey, KC, et al.
Publicado: (2023)

Primary care challenges in diagnosing and referring patients with suspected rheumatoid arthritis: a national cross-sectional GP survey
por: Scott, Ian C, et al.
Publicado: (2018)

Unequal Effects of Myosin 5B Mutations in Liver and Intestine Determine the Clinical Presentation of Low‐Gamma‐Glutamyltransferase Cholestasis
por: van IJzendoorn, Sven C.D., et al.
Publicado: (2020)

The role of TRIM family proteins in the regulation of cancer stem cell self‐renewal
por: Jaworska, Anna Maria, et al.
Publicado: (2019)

Bare necessities? The utility of full skin examination in the COVID‐19 era
por: O’Connor, C., et al.
Publicado: (2021)

Suppression of IL‐12/IL‐23 p40 subunit in the skin and blood of psoriasis patients by Tofacitinib is dependent on active interferon‐γ signaling in dendritic cells: Implications for the treatment of psoriasis and interferon‐driven diseases
por: Vincken, Nanette L. A., et al.
Publicado: (2022)

Segmental Zoster Paresis of Lower Thoracic Segment Presenting as Pseudohernia—A Report of Three Cases
por: Shastry, Veeranna, et al.
Publicado: (2021)

Method for detection of respiratory viruses in the sputa of patients with cystic fibrosis
por: Punch, G., et al.
Publicado: (2004)

Materno-fetal transmission of human coronaviruses: a prospective pilot study
por: Gagneur, A., et al.
Publicado: (2008)

Limited impact of a nudge comment in promoting de-escalation to first-generation cephalosporins in urinary tract infections
por: Brenneman, Martin T., et al.
Publicado: (2022)

Three-Dimensional Spheroid Culture of Human Mesenchymal Stem Cells: Offering Therapeutic Advantages and In Vitro Glimpses of the In Vivo State
por: Yen, B Linju, et al.
Publicado: (2023)

Utility of repeat testing for COVID-19: Laboratory stewardship when the stakes are high
por: Rearigh, Lindsey M., et al.
Publicado: (2020)

Whole-Gene Deletions of FZD4 Cause Familial Exudative Vitreoretinopathy
por: Huang, Li, et al.
Publicado: (2021)

Prognostic role of Wnt and Fzd gene families in acute myeloid leukaemia
por: Dai, Yifeng, et al.
Publicado: (2021)

Cerebrospinal fluid shunt–associated surgical site infection with three-month versus twelve-month surveillance periods in Canadian hospitals
por: Choi, Kelly B., et al.
Publicado: (2023)

Cannot write session to /tmp/vufind_sessions/sess_2fhcuirm901u478iak9u7f856n