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The clinical and genetic spectrum of ınfantile osteopetrosis: a single-center experience ıncluding a novel TCIRG1 mutation

Background: Osteopetrosis (OP) is a rare, severe inherited disorder of bone metabolism caused by impaired osteoclast function. The most severe form, malignant infantile osteopetrosis (MIOP), presents in early life with bone abnormalities, neurologic issues, and often hypocalcemia and carries a high...

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Principais autores: Esra Pekpak Şahinoğlu, Ayşe Ceyda Ören, Bahtiyar Şahinoğlu, Uğur Gümüş, Çağrı Damar, Mehmet Keskin, Sinan Akbayram
Formato: Artigo
Idioma:Inglês
Publicado em: Aydın Pediatric Society 2025-09-01
coleção:Trends in Pediatrics
Assuntos:
malignant infantile osteopetrosis
TCIRG1
OSTM1
CLCN7
genotype-phenotype correlation
marble bone disease
Acesso em linha:https://trendspediatrics.com/article/view/249
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