Case report: multiple fractures in a patient with mutations of TWIST1 and TNSALP.
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Case report: multiple fractures in a patient with mutations of TWIST1 and TNSALP. / Barvencik, Florian; Gebauer, Matthias; Schinke, Thorsten; Amling, Michael.
In: CLIN ORTHOP RELAT R, Vol. 466, No. 4, 4, 2008, p. 990-996.Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review
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TY - JOUR
T1 - Case report: multiple fractures in a patient with mutations of TWIST1 and TNSALP.
AU - Barvencik, Florian
AU - Gebauer, Matthias
AU - Schinke, Thorsten
AU - Amling, Michael
PY - 2008
Y1 - 2008
N2 - 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.
AB - 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.
M3 - SCORING: Zeitschriftenaufsatz
VL - 466
SP - 990
EP - 996
JO - CLIN ORTHOP RELAT R
JF - CLIN ORTHOP RELAT R
SN - 0009-921X
IS - 4
M1 - 4
ER -
