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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SAT-373 A Case of X Linked Hypophosphatemic Rickets Due to DE Novo Phex Gene Mutation

Ahmed Badran, Renee Bargman

Journal of the Endocrine Society. 2020;4(Supplement_1):

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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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Novel PHEX Gene Mutation Associated with X Linked Hypophosphatemic Rickets

M. Chandran, C.L. Chng, Y. Zhao, Y.M. Bee, L.Y. Phua, B.L. Clarke

Nephron Physiology. 2010;116(3):p17-p21

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Novel PHEX Mutation Associated with Hypophosphatemic Rickets

Katharina M. Roetzer, Franz Varga, Elisabeth Zwettler, Kamilla Nawrot-Wawrzyniak, Joerg Haller, Ernst Forster, Klaus Klaushofer

Nephron Physiology. 2007;106(1):p8-p12

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A NovelPHEXGene Mutation in a Patient with Sporadic Hypophosphatemic Rickets

Yea Eun Kang, Jun Hwa Hong, Jimin Kim, Kyong Hye Joung, Hyun Jin Kim, Bon Jeong Ku, Koon Soon Kim

Endocrinology and Metabolism. 2014;29(2):195

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

Chong Kun Cheon, Hoon Sang Lee, Su Yung Kim, Min Jung Kwak, Gu-Hwan Kim, Han-Wook Yoo

Annals of Pediatric Endocrinology & Metabolism. 2014;19(1):36

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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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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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