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Clinical Orthopaedics and Related Research®

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01.04.2008 | Case Report

Case Report

Multiple Fractures in a Patient with Mutations of TWIST1 and TNSALP

verfasst von: Florian Barvencik, MD, Matthias Gebauer, MD, Thorsten Schinke, PhD, Michael Amling, MD

Erschienen in: Clinical Orthopaedics and Related Research® | Ausgabe 4/2008

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Abstract

Hypophosphatasia is a rare inherited disorder characterized by defective skeletal mineralization and low alkaline phosphatase activities in the serum. The genetic cause of hypophosphatasia is believed related to inactivating mutations in the TNSALP gene, encoding tissue-nonspecific alkaline phosphatase. Another rare inheritable disease, Saethre-Chotzen syndrome, leads to premature fusion of the cranial sutures caused by heterozygous mutations of the human TWIST1 gene. Because the two disorders apparently are not genetically related (only reported individually) yet both involve defective skeletal formation, we believe it is important to report our findings on a patient harboring mutations of TNSALP and TWIST1.

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Titel: Case Report
Multiple Fractures in a Patient with Mutations of TWIST1 and TNSALP
verfasst von: Florian Barvencik, MD
Matthias Gebauer, MD
Thorsten Schinke, PhD
Michael Amling, MD
Publikationsdatum: 01.04.2008
Verlag: Springer-Verlag
Erschienen in: Clinical Orthopaedics and Related Research® / Ausgabe 4/2008
Print ISSN: 0009-921X
Elektronische ISSN: 1528-1132
DOI: https://doi.org/10.1007/s11999-008-0123-9

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