The first Korean case report with scaphocephaly as the initial sign of X-linked hypophosphatemic rickets
Author:
Funder
Inje University
Publisher
Springer Science and Business Media LLC
Subject
Neurology (clinical),General Medicine,Pediatrics, Perinatology and Child Health
Link
http://link.springer.com/content/pdf/10.1007/s00381-018-04042-7.pdf
Reference17 articles.
1. Capelli S, Donghi V, Maruca K, Vezzoli G, Corbetta S, Brandi ML, Mora S, Weber G (2015) Clinical and molecular heterogeneity in a large series of patients with hypophosphatemic rickets. Bone 79:143–149. https://doi.org/10.1016/j.bone.2015.05.040
2. Holm IA, Nelson AE, Robinson BG, Mason RS, Marsh DJ, Cowell CT, Carpenter TO (2001) Mutational analysis and genotype-phenotype correlation of the PHEX gene in X-linked hypophosphatemic rickets. J Clin Endocrinol Metab 86(8):3889–3899. https://doi.org/10.1210/jcem.86.8.7761
3. Murthy AS (2009) X-linked hypophosphatemic rickets and craniosynostosis. J Craniofac Surg 20(2):439–442. https://doi.org/10.1097/SCS.0b013e31819b9868
4. Vakharia JD, Matlock K, Taylor HO, Backeljauw PF, Topor LS (2018) Craniosynostosis as the presenting feature of X-linked rickets. Pediatrics 141(Suppl 5):S515–S519. https://doi.org/10.1542/peds.2017-2522
5. Seruya M, Oh AK, Boyajian MJ, Myseros JS, Yaun AL, Keating RF, Rogers GF (2013) Age at initial consultation for craniosynostosis: comparison across different patient characteristics. J Craniofac Surg 24(1):96–98. https://doi.org/10.1097/SCS.0b013e318270fb83
Cited by 3 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. Asia‐Pacific Consensus Recommendations on X‐Linked Hypophosphatemia: Diagnosis, Multidisciplinary Management, and Transition From Pediatric to Adult Care;JBMR Plus;2023-05
2. Craniosynostosis in Patients With X‐Linked Hypophosphatemia: A Review;JBMR Plus;2023-03-14
3. Genetic basis of hereditary hypophosphataemic rickets and phenotype presentation in children and adults;Endokrynologia Polska;2021-08-11
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