A novelde novomutation withinPHEXgene in a young girl with hypophosphatemic rickets and review of literature-Reference-Cited by-同舟云学术

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A novelde novomutation withinPHEXgene in a young girl with hypophosphatemic rickets and review of literature

Published:2014 Issue:1 Volume:19 Page:36
ISSN:2287-1012
Container-title:Annals of Pediatric Endocrinology & Metabolism
language:en
Short-container-title:Ann Pediatr Endocrinol Metab

Author:

Cheon Chong Kun¹,Lee Hoon Sang¹,Kim Su Yung¹,Kwak Min Jung²,Kim Gu-Hwan³,Yoo Han-Wook³

Affiliation:

1. Department of Pediatrics, Pusan National University Children's Hospital, Pusan National University School of Medicine, Yangsan, Korea.

2. Department of Pediatrics, Pusan National University Hospital, Pusan National University School of Medicine, Busan, Korea.

3. Medical Genetics Clinic and Laboratory, Asan Medical Center Children's Hospital, Seoul, Korea.

Publisher

Korean Society of Pediatric Endocrinology

Subject

Endocrinology, Diabetes and Metabolism,Pediatrics, Perinatology, and Child Health

Link

http://e-apem.org/upload/pdf/apem-19-36.pdf

Reference18 articles.

1. Novel PHEX Nonsense Mutation in a Patient with X-Linked Hypophosphatemic Rickets and Review of Current Therapeutic Regimens

2. Mutational survey of the PHEX gene in patients with X-linked hypophosphatemic rickets

3. Mutational Analysis and Genotype-Phenotype Correlation of the PHEX Gene in X-Linked Hypophosphatemic Rickets

4. Three novel PHEX gene mutations in four Chinese families with X-linked dominant hypophosphatemic rickets

Cited by 14 articles. 订阅此论文施引文献订阅此论文施引文献，注册后可以免费订阅5篇论文的施引文献，订阅后可以查看论文全部施引文献

1. A novel variant of PHEX in a Korean family with X-linked hypophosphatemic rickets;Journal of Genetic Medicine;2022-06-30

2. Phenotypes of a family with XLH with a novel PHEX mutation;Human Genome Variation;2020-03-31

3. Identification of a novel variant in the PHEX gene using targeted gene panel sequencing in a 24-month-old boy with hypophosphatemic rickets;Annals of Pediatric Endocrinology & Metabolism;2020-03-31

4. New Technologies in Pre- and Postnatal Diagnosis;Maternal-Fetal and Neonatal Endocrinology;2020

5. A novel de novo mosaic mutation in PHEX in a Korean patient with hypophosphatemic rickets;Annals of Pediatric Endocrinology & Metabolism;2018-12-31

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