Exome sequencing reveals a mutation in DMP1 in a family with familial sclerosing bone dysplasia-Reference-Cited by-同舟云学术

Exome sequencing reveals a mutation in DMP1 in a family with familial sclerosing bone dysplasia

Published:2014-11 Issue: Volume:68 Page:142-145
ISSN:8756-3282
Container-title:Bone
language:en
Short-container-title:Bone

Author:

Gannagé-Yared Marie-Hélène,Makrythanasis Periklis,Chouery Eliane,Sobacchi Cristina^ORCID,Mehawej Cybel,Santoni Federico A.,Guipponi Michel,Antonarakis Stylianos E.,Hamamy Hanan,Mégarbané André

Funder

Bodossaki Foundation

Telethon Foundation

Ministero della Salute

Gebert Rüf Stiftung

von Meissner

Publisher

Elsevier BV

Subject

Histology,Physiology,Endocrinology, Diabetes and Metabolism

Reference20 articles.

1. Incidence and prevalence of nutritional and hereditary rickets in southern Denmark;Beck-Nielsen;Eur J Endocrinol,2009

2. The HYP Consortium;A gene (PEX);Nat Genet.,1995

3. Autosomal dominant hypophosphataemic rickets is associated with mutations in FGF23. ADHR Consortium;Nat Genet,2000

4. Loss of DMP1 causes rickets and osteomalacia and identifies a role for osteocytes in mineral metabolism;Feng;Nat Genet,2006

5. DMP1 mutations in autosomal recessive hypophosphatemia implicate a bone matrix protein in the regulation of phosphate homeostasis;Lorenz-Depiereux;Nat Genet,2006

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. Genetics of Diffuse Idiopathic Skeletal Hyperostosis and Ossification of the Spinal Ligaments;Current Osteoporosis Reports;2023-08-02

2. Molecular Diagnoses of X‐Linked and Other Genetic Hypophosphatemias: Results From a Sponsored Genetic Testing Program;Journal of Bone and Mineral Research;2021-11-10

3. Catalogue for Transmission Genetics in Arabs (CTGA) Database: Analysing Lebanese Data on Genetic Disorders;Genes;2021-09-27

4. Disorders of calcium metabolism;Handbook of Diagnostic Endocrinology;2021

5. Clinical Characteristics and Bone Features of Autosomal Recessive Hypophosphatemic Rickets Type 1 in Three Chinese Families: Report of Five Chinese Cases and Review of the Literature;Calcified Tissue International;2020-09-12