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
X-linked hypophosphatemia (XLH) is a rare X-linked dominant inherited disorder caused by loss-of-function variants in the PHEX gene and characterized by renal phosphate wasting, hypophosphatemia, abnormal vitamin D metabolism, growth retardation and lower limb deformities. We describe a case of XLH-...
Main Authors: | , , , , , , , , |
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Format: | Article |
Language: | English |
Published: |
Elsevier
2024-03-01
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Series: | Bone Reports |
Subjects: | |
Online Access: | http://www.sciencedirect.com/science/article/pii/S2352187223000773 |