Novel PHEX gene locus‐specific database: Comprehensive characterization of vast number of variants associated with X‐linked hypophosphatemia (XLH)-Reference-Cited by-同舟云学术

Novel PHEX gene locus‐specific database: Comprehensive characterization of vast number of variants associated with X‐linked hypophosphatemia (XLH)

Published:2021-12-05 Issue:2 Volume:43 Page:143-157
ISSN:1059-7794
Container-title:Human Mutation
language:en
Short-container-title:Human Mutation

Author:

Sarafrazi Soodabeh¹,Daugherty Sean C.¹,Miller Nicole¹,Boada Patrick¹,Carpenter Thomas O.²,Chunn Lauren³,Dill Kariena¹^ORCID,Econs Michael J.⁴,Eisenbeis Scott¹,Imel Erik A.⁴,Johnson Britt⁵,Kiel Mark J.³,Krolczyk Stan¹,Ramesan Prameela¹,Truty Rebecca⁶,Sabbagh Yves⁷

Affiliation:

1. Medical Affairs Ultragenyx Pharmaceutical, Inc. Novato California USA

2. Department of Pediatrics (Endocrinology) Yale University School of Medicine New Haven Connecticut USA

3. Data Science Genomenon Inc. Ann Arbor Michigan USA

4. Division of Endocrinology and Metabolism Indiana University School of Medicine Indianapolis Indiana USA

5. Medical Affairs Invitae Corporation San Francisco California USA

6. External Relations Invitae Corporation San Francisco California USA

7. Research and Development Inozyme Pharma Boston Massachusetts USA

Publisher

Wiley

Subject

Genetics (clinical),Genetics

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1002/humu.24296

Reference42 articles.

1. Rickets resistant to vitamin D therapy;Albright F.;American Journal of Diseases of Children,1937

2. Proteolytic processing of osteopontin by PHEX and accumulation of osteopontin fragments in Hyp mouse bone, the murine model of X-linked hypophosphatemia

3. Incidence and prevalence of nutritional and hereditary rickets in southern Denmark

4. Phenotype Presentation of Hypophosphatemic Rickets in Adults

5. FGF23 and its role in X-linked hypophosphatemia-related morbidity

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2. X-linked hypophosphataemia;The Lancet;2024-08

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4. Refractory rickets: A case of X-linked hypophosphatemic rickets (PHEX gene variation);Journal of Pediatric Endocrinology and Diabetes;2024-05-27

5. Three exonic variants in the PHEX gene cause aberrant splicing in a minigene assay;Frontiers in Genetics;2024-05-22