Annals of Pediatric Endocrinology & Metabolism

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A novel de novo mosaic mutation in PHEX in a Korean patient with hypophosphatemic rickets

Misun Yang, Jinsup Kim, Aram Yang, Jahyun Jang, Tae Yeon Jeon, Sung Yoon Cho, Dong-Kyu Jin

Ann Pediatr Endocrinol Metab. 2018;23(4):229-234. Published online December 31, 2018
DOI: https://doi.org/10.6065/apem.2018.23.4.229

A novel de novo mosaic mutation in PHEX in a Korean patient with hypophosphatemic rickets

Misun Yang, Jinsup Kim, Aram Yang, Jahyun Jang, Tae Yeon Jeon, Sung Yoon Cho, Dong-Kyu Jin

Annals of Pediatric Endocrinology & Metabolism. 2018;23(4):229-234

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A de novo mosaic mutation of PHEX in a boy with hypophosphatemic rickets

Chen Weng, Jiao Chen, Li Sun, Zhong-Wei Zhou, Xue Feng, Jun-Hui Sun, Ling-Ping Lu, Ping Yu, Ming Qi

Journal of Human Genetics. 2015;61(3):223-227

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A novel mutation of PHEX causes a dominant X-linked hypophosphatemic rickets

L. Masi, S. Carbonell Sala, A. Gozzini, I. Pela, E. Luzi, F. Franceschelli, A. Tanini, M. Brandi

Bone. 2007;40(6):S62

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Identification of fifteen novel PHEX gene mutations in Finnish patients with hypophosphatemic rickets

Henna Tyynismaa, Ilkka Kaitila, Kirsti N�nt�-Salonen, Marja Ala-Houhala, Tiina Alitalo

Human Mutation. 2000;15(4):383-384

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Novel de novo nonsense mutation of the PHEX gene (p.Lys50Ter) in a Chinese patient with hypophosphatemic rickets

Yanru Huang, Libin Mei, Qian Pan, Hu Tan, Yi Quan, Baoheng Gui, Jiazhen Chang, Ruiyu Ma, Ying Peng, Pu Yang, Desheng Liang, Lingqian Wu

Gene. 2015;565(1):150-154

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Mutational analysis of PHEX, FGF23 and DMP1 in a cohort of patients with hypophosphatemic rickets

Mary D. Ruppe, Patrick G. Brosnan, Kit Sing Au, Phong X. Tran, Barbara W. Dominguez, Hope Northrup

Clinical Endocrinology. 2011;74(3):312-318

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Identification a novel insertion PHEX mutation in a sporadic patient with hypophosphatemic rickets

P. Jin, L. H. Wang, Z. H. Mo

Journal of Endocrinological Investigation. 2018;42(3):357-359

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Novel and de novo PHEX mutations in patients with hypophosphatemic rickets

Erdem Durmaz, Minjing Zou, Roua A. Al-Rijjal, Essa Y. Baitei, Sumaya Hammami, İffet Bircan, Sema Akçurin, Brian Meyer, Yufei Shi

Bone. 2013;52(1):286-291

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A novel Phex mutation in a new mouse model of hypophosphatemic rickets

Celeste Owen, Frieda Chen, Ann M. Flenniken, Lucy R. Osborne, Shoji Ichikawa, S. Lee Adamson, Janet Rossant, Jane E. Aubin

Journal of Cellular Biochemistry. 2012;113(7):2432-2441

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PHEX Gene Mutations and Genotype-Phenotype Analysis of Korean Patients with Hypophosphatemic Rickets

Hae-Ryong Song, Joo-Won Park, Dae-Yeon Cho, Jae Hyuk Yang, Hye-Ran Yoon, Sung-Chul Jung

Journal of Korean Medical Science. 2007;22(6):981

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