X-linked hypophosphatemia due to a de novo novel splice-site variant in a 7-year-old girl with scaphocephaly, Chiari syndrome type I and syringomyelia-Reference-Cited by-同舟云学术

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X-linked hypophosphatemia due to a de novo novel splice-site variant in a 7-year-old girl with scaphocephaly, Chiari syndrome type I and syringomyelia

Published:2024-03 Issue: Volume:20 Page:101731
ISSN:2352-1872
Container-title:Bone Reports
language:en
Short-container-title:Bone Reports

Author:

Fourikou Maria,Karipiadou Aristea,Ververi Athina,Savvidou Parthena,Laliotis Nikolaos,Tsitouras Vassilios,Stabouli Stella,Roilides Emmanuel,Kollios Konstantinos

Publisher

Elsevier BV

Subject

Orthopedics and Sports Medicine,Endocrinology, Diabetes and Metabolism

Reference21 articles.

1. Pediatric and adult Chiari malformation Type I surgical series 1965-2013: a review of demographics, operative treatment, and outcomes;Arnautovic;J. Neurosurg. Pediatr.,2015

2. X-linked hypophosphatemic rickets: multisystemic disorder in children requiring multidisciplinary management;Baroncelli;Front. Endocrinol. (Lausanne),2021

3. Functional analysis of 22 splice-site mutations in the PHEX, the causative gene in X-linked dominant hypophosphatemic rickets;BinEssa;Bone,2019

4. Renal phosphate wasting disorders: clinical features and pathogenesis;Brame;Semin. Nephrol.,2004

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