Cargando…

PHEX Gene Mutation in a Patient with X-Linked Hypophosphatemic Rickets in a Developing Country

INTRODUCTION: X-linked hypophosphatemic rickets is part of a larger group of hereditary diseases characterized by renal phosphate loss, which causes growth disorders, rickets, and osteomalacia. These conditions are characterized by disorders in phosphate equilibrium, which is essential for bone form...

Descripción completa

Detalles Bibliográficos
Autores principales:	Forero-Delgadillo, Jessica María, Cleves, Daniela, Ochoa, Vanessa, Londoño-Correa, Hernando, Restrepo, Jaime Manuel, Nastasi-Catanese, José Antonio, Pachajoa, Harry
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	Dove 2020
Materias:	Case Report
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7025672/ https://www.ncbi.nlm.nih.gov/pubmed/32104046 http://dx.doi.org/10.2147/TACG.S232448

Ejemplares similares

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

New PAX2 Mutation Associated with Polycystic Kidney Disease: A Case Report
por: Forero-Delgadillo, Jessica Maria, et al.
Publicado: (2021)

PHEX Gene Mutations and Genotype-Phenotype Analysis of Korean Patients with Hypophosphatemic Rickets
por: Song, Hae-Ryong, et al.
Publicado: (2007)

A Novel PHEX Gene Mutation in a Patient with Sporadic Hypophosphatemic Rickets
por: Kang, Yea Eun, et al.
Publicado: (2014)

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

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)

Identification of Two Novel Mutations in the PHEX Gene in Chinese Patients with Hypophosphatemic Rickets/Osteomalacia
por: Yue, Hua, et al.
Publicado: (2014)

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

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)

Three Novel Mutations in the PHEX Gene in Chinese Subjects with Hypophosphatemic Rickets Extends Genotypic Variability
por: Jap, Tjin-Shing, et al.
Publicado: (2011)

Whole Exome Sequencing Reveals Novel PHEX Splice Site Mutations in Patients with Hypophosphatemic Rickets
por: Ma, Sara L., et al.
Publicado: (2015)

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

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

Whole exome sequencing identifies two novel variants in PHEX and DMP1 in Malaysian children with hypophosphatemic rickets
por: Tavana, Nahid, et al.
Publicado: (2022)

Hypophosphatemic rickets
por: Jagtap, Varsha S., et al.
Publicado: (2012)

A novel c.2179T>C mutation blocked the intracellular transport of PHEX protein and caused X‐linked hypophosphatemic rickets in a Chinese family
por: Li, Baowei, et al.
Publicado: (2020)

Papilledema in the Setting of X-Linked Hypophosphatemic Rickets with Craniosynostosis
por: Glass, Lora R. Dagi, et al.
Publicado: (2011)

X-linked hypophosphatemic rickets: a new mutation
por: Maio, Patrícia, et al.
Publicado: (2020)

A novel de novo mutation within PHEX gene in a young girl with hypophosphatemic rickets and review of literature
por: Cheon, Chong Kun, et al.
Publicado: (2014)

A New de novo Mosaic Mutation of PHEX Gene: A Case Report of a Boy with Hypophosphatemic Rickets
por: Terracciano, Alessandra, et al.
Publicado: (2023)

Approach to Hypophosphatemic Rickets
por: Ackah, Sarah A, et al.
Publicado: (2022)

X-linked hypophosphatemic rickets: an Italian experts’ opinion survey
por: Emma, F., et al.
Publicado: (2019)

The paradoxical coexistence of hypophosphatemic rickets and increased bone density in spine of a subject carrying a novel splice site mutation in PHEX
por: Chen, Xiang, et al.
Publicado: (2019)

Function of PHEX mutations p.Glu145* and p.Trp749Arg in families with X-linked hypophosphatemic rickets by the negative regulation mechanism on FGF23 promoter transcription
por: Gan, Yu-mian, et al.
Publicado: (2022)

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

Osteocytes and the pathogenesis of hypophosphatemic rickets
por: Yamazaki, Miwa, et al.
Publicado: (2022)

Compositional and microhardness findings in tooth affected by X-linked hypophosphatemic rickets
por: Carvalho, Francisco-Samuel-Rodrigues, et al.
Publicado: (2020)

X-Linked Hypophosphatemic Rickets Manifesting as Sclerotic Bone Disease and Enthesopathy
por: Boro, Hiya, et al.
Publicado: (2020)

Mineralization Defects in the Primary Dentition Associated With X‐Linked Hypophosphatemic Rickets
por: Clayton, Delaney, et al.
Publicado: (2021)

Genetic diagnosis of X-linked dominant hypophosphatemic rickets in a cohort study: Tubular reabsorption of phosphate and 1,25(OH)(2)D serum levels are associated with PHEX mutation type
por: Morey, Marcos, et al.
Publicado: (2011)

Identification of a novel variant in the PHEX gene using targeted gene panel sequencing in a 24-month-old boy with hypophosphatemic rickets
por: Jo, Ha Young, et al.
Publicado: (2020)

Nephrocalcinosis and Nephrolithiasis in X-Linked Hypophosphatemic Rickets: Diagnostic Imaging and Risk Factors
por: Colares Neto, Guido de Paula, et al.
Publicado: (2019)

X-Linked Hypophosphatemic Rickets: Multisystemic Disorder in Children Requiring Multidisciplinary Management
por: Baroncelli, Giampiero Igli, et al.
Publicado: (2021)

X-linked hypophosphatemic rickets with advanced bone age treated with aromatase inhibitor
por: Felipe Queiroz, João, et al.
Publicado: (2023)

Hypophosphatemic Rickets and its Dental Significance
por: Ramazani, Nahid
Publicado: (2013)

Hypophosphatemic Rickets and its Dental Significance
por: Ziaee, Vahid, et al.
Publicado: (2013)

Epidermal Nevus Syndrome with Hypophosphatemic Rickets
por: Goyal, Alpesh, et al.
Publicado: (2020)

Multidisciplinary patient care in X‐linked hypophosphatemic rickets: one challenge, many perspectives
por: Raimann, Adalbert, et al.
Publicado: (2020)

A Case of X-Linked Hypophosphatemic Rickets with Dentin Dysplasia in Mandibular Third Molars
por: Okawa, Rena, et al.
Publicado: (2022)

Recurrent Soft Tissue Infections Associated With Burosumab Therapy in X-Linked Hypophosphatemic Rickets
por: Yoon, Sean Ho, et al.
Publicado: (2023)

Cannot write session to /tmp/vufind_sessions/sess_vftkfm21onh9ljuie5kigd7cl7