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Osteopetrosis and Its Relevance for the Discovery of New Functions Associated with the Skeleton
Joint Authors
Del Fattore, Andrea
Coudert, Amélie E.
de Vernejoul, Marie-Christine
Muraca, Maurizio
Source
International Journal of Endocrinology
Issue
Vol. 2015, Issue 2015 (31 Dec. 2015), pp.1-8, 8 p.
Publisher
Hindawi Publishing Corporation
Publication Date
2015-03-19
Country of Publication
Egypt
No. of Pages
8
Main Subjects
Abstract EN
Osteopetrosis is a rare genetic disorder characterized by an increase of bone mass due to defective osteoclast function.
Patients typically displayed spontaneous fractures, anemia, and in the most severe forms hepatosplenomegaly and compression of cranial facial nerves leading to deafness and blindness.
Osteopetrosis comprises a heterogeneous group of diseases as several forms are known with different models of inheritance and severity from asymptomatic to lethal.
This review summarizes the genetic and clinical features of osteopetrosis, emphasizing how recent studies of this disease have contributed to understanding the central role of the skeleton in the whole body physiology.
In particular, the interplay of bone with the stomach, insulin metabolism, male fertility, the immune system, bone marrow, and fat is described.
American Psychological Association (APA)
Coudert, Amélie E.& de Vernejoul, Marie-Christine& Muraca, Maurizio& Del Fattore, Andrea. 2015. Osteopetrosis and Its Relevance for the Discovery of New Functions Associated with the Skeleton. International Journal of Endocrinology،Vol. 2015, no. 2015, pp.1-8.
https://search.emarefa.net/detail/BIM-1065664
Modern Language Association (MLA)
Coudert, Amélie E.…[et al.]. Osteopetrosis and Its Relevance for the Discovery of New Functions Associated with the Skeleton. International Journal of Endocrinology No. 2015 (2015), pp.1-8.
https://search.emarefa.net/detail/BIM-1065664
American Medical Association (AMA)
Coudert, Amélie E.& de Vernejoul, Marie-Christine& Muraca, Maurizio& Del Fattore, Andrea. Osteopetrosis and Its Relevance for the Discovery of New Functions Associated with the Skeleton. International Journal of Endocrinology. 2015. Vol. 2015, no. 2015, pp.1-8.
https://search.emarefa.net/detail/BIM-1065664
Data Type
Journal Articles
Language
English
Notes
Includes bibliographical references
Record ID
BIM-1065664