Annals of Pediatric Endocrinology & Metabolism

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Identification of a novel variant in the PHEX gene using targeted gene panel sequencing in a 24-month-old boy with hypophosphatemic rickets

Ha Young Jo, Jung Hyun Shin, Hye Young Kim, Young Mi Kim, Heirim Lee, Mi Hye Bae, Kyung Hee Park, Ja-Hyun Jang, Min Jung Kwak

Ann Pediatr Endocrinol Metab. 2020;25(1):63-67. Published online March 31, 2020
DOI: https://doi.org/10.6065/apem.2020.25.1.63

Identification of a novel variant in the PHEX gene using targeted gene panel sequencing in a 24-month-old boy with hypophosphatemic rickets

Ha Young Jo, Jung Hyun Shin, Hye Young Kim, Young Mi Kim, Heirim Lee, Mi Hye Bae, Kyung Hee Park, Ja-Hyun Jang, Min Jung Kwak

Annals of Pediatric Endocrinology & Metabolism. 2020;25(1):63-67

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

Henna Tyynismaa, Ilkka Kaitila, Kirsti Näntö‐Salonen, Marja Ala‐Houhala, Tiina Alitalo

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

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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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Targeted Hotspot Gene Panel Using Massively Parallel Sequencing (Next Generation Sequencing)

Diagnostic Pathology: Molecular Oncology. 2016;4-20-4-21

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Identification of Two Novel Mutations in the PHEX Gene in Chinese Patients with Hypophosphatemic Rickets/Osteomalacia

Hua Yue, Jin-bo Yu, Jin-wei He, Zeng Zhang, Wen-zhen Fu, Hao Zhang, Chun Wang, Wei-wei Hu, Jie-mei Gu, Yun-qiu Hu, Miao Li, Yu-juan Liu, Zhen-Lin Zhang

PLoS ONE. 2014;9(5):e97830

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Whole Exome Sequencing Reveals Novel PHEX Splice Site Mutations in Patients with Hypophosphatemic Rickets

Sara L. Ma, Virginia Vega-Warner, Christopher Gillies, Matthew G. Sampson, Vijay Kher, Sidharth K. Sethi, Edgar A. Otto

PLOS ONE. 2015;10(6):e0130729

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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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Three Novel Mutations of the PHEX Gene in Three Chinese Families with X-linked Dominant Hypophosphatemic Rickets

Weibo Xia, Xunwu Meng, Yan Jiang, Mei Li, Xiaoping Xing, Li Pang, Ou Wang, Yu Pei, Li-Yun Yu, Yue Sun, Yingying Hu, Xueying Zhou

Calcified Tissue International. 2007;81(6):415-420

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Mutational survey of the PHEX gene in patients with X-linked hypophosphatemic rickets

Shoji Ichikawa, Elizabeth A. Traxler, Selina A. Estwick, Leah R. Curry, Michelle L. Johnson, Andrea H. Sorenson, Erik A. Imel, Michael J. Econs

Bone. 2008;43(4):663-666

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