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Fifty Years of Misdiagnosis: Two Sisters with X-Linked Hypophosphatemia Misdiagnosed as Achondroplasia

X-linked hypophosphatemia (XLH) is the most common inherited form of hypophosphatemic rickets, caused by inactivating mutations in the phosphate-regulating endopeptidase homolog, X-linked (PHEX) gene. Despite its distinct clinical and biochemical features, XLH can be misdiagnosed as achondroplasia...

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Principais autores: Esra Eraslan Aydemir, Şerife Özkarakoç Ertürk, Can Berk Leblebici, Halil Gürhan Karabulut, Özgür Demir
Formato: Artigo
Idioma:Inglês
Publicado em: Society of Endocrinology and Metabolism of Turkey 2026-06-01
coleção:Endocrinology Research and Practice
Assuntos:
Achondroplasia
hypophosphatemic rickets
misdiagnosis
PHEX gene
X-linked hypophosphatemia
Acesso em linha:https://www.endocrinolrespract.org/index.php/pub/article/view/1361
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