2022
DOI: 10.1002/humu.24334
|View full text |Cite
|
Sign up to set email alerts
|

Cover, Volume 43, Issue 2

Abstract: The cover image is based on the Research Article Novel PHEX gene locus‐specific database: Comprehensive characterization of vast number of variants associated with X‐linked hypophosphatemia (XLH) by Yves Sabbagh et al., https://doi.org/10.1002/humu.24296.

Help me understand this report

Search citation statements

Order By: Relevance

Paper Sections

Select...
1
1

Citation Types

0
2
0

Year Published

2022
2022
2023
2023

Publication Types

Select...
2

Relationship

0
2

Authors

Journals

citations
Cited by 2 publications
(2 citation statements)
references
References 0 publications
0
2
0
Order By: Relevance
“…To obtain information from medical literature and conduct a comprehensive review, we accessed various databases including ClinVar (18), the Human Gene Mutation Database (HGMD) (19), PHEX Locus Specific Database (20), Online Mendelian Inheritance in Man (OMIM), Mastermind (21), and pertinent PubMed articles (15)(16)(17)(18)(19)(20)(21). To evaluate the effect of the variant type on the phenotype, we classified the variants into two categories: truncating variants, including nonsense, frameshift, and splice-site alterations; and non-truncating variants, comprising previously reported missense variants (7,10,22).…”
Section: Phex Sequencing and Variant Analysismentioning
confidence: 99%
“…To obtain information from medical literature and conduct a comprehensive review, we accessed various databases including ClinVar (18), the Human Gene Mutation Database (HGMD) (19), PHEX Locus Specific Database (20), Online Mendelian Inheritance in Man (OMIM), Mastermind (21), and pertinent PubMed articles (15)(16)(17)(18)(19)(20)(21). To evaluate the effect of the variant type on the phenotype, we classified the variants into two categories: truncating variants, including nonsense, frameshift, and splice-site alterations; and non-truncating variants, comprising previously reported missense variants (7,10,22).…”
Section: Phex Sequencing and Variant Analysismentioning
confidence: 99%
“…To date, more than 800 different PHEX mutations have been identified (HGMD, http://www.hgmd.cf. ac.uk/ac/index.php and https://www.rarediseasegenes.com) (19). In our study, we fully described the clinical features, PHEX gene mutation sites, and iFGF23 levels of 29 patients with XLH as well as recommend optimal operation timing.…”
Section: Introductionmentioning
confidence: 98%