A Neonatal Case of Infantile Malignant Osteopetrosis Presenting with Thrombocytopenia and Hypotonicity: A Novel Mutation in Chloride Voltage-Gated Channel 7 Gene

Autosomal recessive osteopetrosis is also known as infantile malignant osteopetrosis (IMO). The clinical course is often serious and if left untreated, it is fatal in the 1st year of life. Diagnosis is challenging and often delayed or misdiagnosed. Herein, we present an infant girl who was diagnosed...

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Detalles Bibliográficos
Autores principales: Odaman Al, Isik, Oymak, Yesim, Hazan, Filiz, Gursoy, Semra, Ozturk, Tulay, Bag, Ozlem, Gozmen, Salih, Karakaya, Nurgul, Karapinar, Tuba Hilkay
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Med Bull Sisli Etfal Hosp 2022
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9040309/
https://www.ncbi.nlm.nih.gov/pubmed/35515972
http://dx.doi.org/10.14744/SEMB.2021.88964

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9040309/
https://www.ncbi.nlm.nih.gov/pubmed/35515972
http://dx.doi.org/10.14744/SEMB.2021.88964

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