Cargando…

A De Novo Deleterious PHEX Variant Without Clinical Features of X-Linked Hypophosphatemia

X-linked hypophosphatemia (XLH), the most common form of hereditary rickets, is due to inactivation of PHEX, resulting in increased circulating fibroblast growth factor 23. Consequent renal phosphate loss leads to hypophosphatemia, rickets, and progressive bow deformity. Inheritance is X-linked domi...

Descripción completa

Detalles Bibliográficos
Autores principales:	Kayser, Michelle, Jain, Preti, Bale, Allen, Carpenter, Thomas O
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	Oxford University Press 2023
Materias:	Case Report
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10586592/ https://www.ncbi.nlm.nih.gov/pubmed/37908207 http://dx.doi.org/10.1210/jcemcr/luad082

Ejemplares similares

Outcome of adult patients with X-linked hypophosphatemia caused by PHEX gene mutations
por: Chesher, Douglas, et al.
Publicado: (2018)

Novel PHEX gene locus‐specific database: Comprehensive characterization of vast number of variants associated with X‐linked hypophosphatemia (XLH)
por: Sarafrazi, Soodabeh, et al.
Publicado: (2021)

Analysis of 2 novel mutations of PHEX gene inducing X-linked dominant hypophosphatemia rickets in 2 families: Two case reports
por: Gao, Yue, et al.
Publicado: (2018)

Growth Curves for Children with X-linked Hypophosphatemia
por: Mao, Meng, et al.
Publicado: (2020)

SAT-373 A Case of X Linked Hypophosphatemic Rickets Due to DE Novo Phex Gene Mutation
por: Badran, Ahmed, et al.
Publicado: (2020)

X‐Linked Hypophosphatemia Caused by the Prevailing North American PHEX Variant c.*231A>G; Exon 13–15 Duplication Is Often Misdiagnosed as Ankylosing Spondylitis and Manifests in Both Men and Women
por: Dahir, Kathryn McCrystal, et al.
Publicado: (2022)

X-linked hypophosphatemic osteomalacia with PHEX mutation presenting late in Pakistan
por: Zehra, Nawazish, et al.
Publicado: (2021)

Serum Levels of Lipocalin Are Lower in Adolescents With X-Linked Hypophosphatemia
por: Simpson, Christine A, et al.
Publicado: (2021)

Clinical and genetic characteristics of 15 families with hereditary hypophosphatemia: Novel Mutations in PHEX and SLC34A3
por: Acar, Sezer, et al.
Publicado: (2018)

A Novel PHEX Mutation in Japanese Patients with X-Linked Hypophosphatemic Rickets
por: Kawahara, Tetsuya, et al.
Publicado: (2015)

Circulating Levels of Leptin and Lipocalin-2 in Patients With X-Linked Hypophosphatemia
por: Simpson, Christine A, et al.
Publicado: (2023)

Two novel variants of the PHEX gene in patients with X-linked dominant hypophosphatemic rickets and prenatal diagnosis for fetuses in these families
por: Liao, Hong, et al.
Publicado: (2018)

Dental management of patients with X-linked hypophosphatemia
por: Lee, Bin-Na, et al.
Publicado: (2017)

Enthesopathy, Osteoarthritis, and Mobility in X-linked Hypophosphatemia
por: Imel, Erik A
Publicado: (2020)

Genotype and Phenotype Analysis in X-Linked Hypophosphatemia
por: Park, Peong Gang, et al.
Publicado: (2021)

Impact of X-Linked Hypophosphatemia on Muscle Symptoms
por: Romagnoli, Cecilia, et al.
Publicado: (2022)

De Novo Large Deletions in the PHEX Gene Caused X-Linked Hypophosphataemic Rickets in Two Italian Female Infants Successfully Treated with Burosumab
por: Pecoraro, Carmine, et al.
Publicado: (2023)

A pathogenic PHEX variant (c.1483-1G>C) in a Korean patient with X-linked hypophosphatemic rickets
por: Jeong, In Hwa, et al.
Publicado: (2021)

Fix That PHEX Loss
por: Sunny, Sonie Sarah
Publicado: (2021)

Long-term Burosumab Administration Is Safe and Effective in Adults With X-linked Hypophosphatemia
por: Weber, Thomas J, et al.
Publicado: (2022)

PHEX Gene Mutation in a Patient with X-Linked Hypophosphatemic Rickets in a Developing Country
por: Forero-Delgadillo, Jessica María, et al.
Publicado: (2020)

Functional analysis of a de novo mutation c.1692 del A of the PHEX gene in a Chinese family with X-linked hypophosphataemic rickets
por: Huang, Jianbo, et al.
Publicado: (2019)

Musculoskeletal Features in Adults With X-linked Hypophosphatemia: An Analysis of Clinical Trial and Survey Data
por: Javaid, Muhammad Kassim, et al.
Publicado: (2021)

Autism and X-linked hypophosphatemia: A possible association?
por: Joël, Vermeersch, et al.
Publicado: (2010)

SUN-526 Prevalence of Hyperparathyroidism in X-Linked Hypophosphatemia
por: DeLacey, Sean, et al.
Publicado: (2019)

X-Linked Hypophosphatemia: A New Era in Management
por: Dahir, Kathryn, et al.
Publicado: (2020)

X-linked Hypophosphatemia (XLH) Mimicking Rheumatic Disease
por: Takase, Ryosuke, et al.
Publicado: (2020)

Burosumab and Dental Abscesses in Children With X‐Linked Hypophosphatemia
por: Gadion, Margaux, et al.
Publicado: (2022)

Craniosynostosis in Patients With X‐Linked Hypophosphatemia: A Review
por: Munns, Craig F, et al.
Publicado: (2023)

SAT-360 Out of Sight, out of Mind: PHEX 3’-UTR C.*231A>G X-Linked Hypophosphatemia in Adults: A Case Study of One Family Pedigree with a Widely Variable Phenotype
por: Williams, Alexander, et al.
Publicado: (2020)

Seven novel and six de novo PHEX gene mutations in patients with hypophosphatemic rickets
por: Li, Shan-Shan, et al.
Publicado: (2016)

Increased prevalence of overweight and obesity in children with X-linked hypophosphatemia
por: Zhukouskaya, Volha V, et al.
Publicado: (2020)

Phenotypic characterization of X-linked hypophosphatemia in pediatric Spanish population
por: Rodríguez-Rubio, Enrique, et al.
Publicado: (2021)

Consensus Recommendations for the Diagnosis and Management of X-Linked Hypophosphatemia in Belgium
por: Laurent, Michaël R., et al.
Publicado: (2021)

Erratum to: “X-Linked Hypophosphatemia: A New Era in Management”
Publicado: (2021)

Health-related quality of life of X-linked hypophosphatemia in Spain
por: Yanes, M. I. Luis, et al.
Publicado: (2022)

Ossification of the Posterior Longitudinal Ligament Caused by X-linked Hypophosphatemia
por: Yamamoto, Koichiro, et al.
Publicado: (2023)

Identification of a Novel Missense Mutation of the PHEX Gene in a Large Chinese Family with X-Linked Hypophosphataemia
por: Yang, Yanting, et al.
Publicado: (2022)

A novel de novo mosaic mutation in PHEX in a Korean patient with hypophosphatemic rickets
por: Yang, Misun, et al.
Publicado: (2018)

Sclerostin antibody improves alveolar bone quality in the Hyp mouse model of X-Linked Hypophosphatemia (XLH)
por: Ross, Ryan, et al.
Publicado: (2023)

Cannot write session to /tmp/vufind_sessions/sess_nv5pmp4c4f89q11gscb498198j