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A case of progressive osseous heteroplasia: a first case in Japan.
Skeletal Radiol. 2008 Jun; 37(6):563-7.SR

Abstract

Progressive osseous heteroplasia (POH) is a rare, hereditary, disorder (number 166350 in Mendelian Inheritance in Man), which was first identified in 1994 and is characterized by dermal ossification beginning in infancy as a result of increasing and extensive bone formation in deep muscle and fascia. We describe a boy with typical clinical, radiographic, and genetic features of POH. A nonsense mutation in exon 7 of the GNAS1 gene was identified in genomic DNA from the patient. No such case has been reported in East Asia or Japan before this patient.

Authors+Show Affiliations

Department of Orthopedic Surgery, Graduate School of Biomedical Sciences, Nagasaki University, Nagasaki City, Japan. kenjikum@nagasaki-u.ac.jpNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info available

Pub Type(s)

Case Reports
Journal Article

Language

eng

PubMed ID

18309480

Citation

Kumagai, Kenji, et al. "A Case of Progressive Osseous Heteroplasia: a First Case in Japan." Skeletal Radiology, vol. 37, no. 6, 2008, pp. 563-7.
Kumagai K, Motomura K, Egashira M, et al. A case of progressive osseous heteroplasia: a first case in Japan. Skeletal Radiol. 2008;37(6):563-7.
Kumagai, K., Motomura, K., Egashira, M., Tomita, M., Suzuki, M., Uetani, M., & Shindo, H. (2008). A case of progressive osseous heteroplasia: a first case in Japan. Skeletal Radiology, 37(6), 563-7. https://doi.org/10.1007/s00256-008-0469-9
Kumagai K, et al. A Case of Progressive Osseous Heteroplasia: a First Case in Japan. Skeletal Radiol. 2008;37(6):563-7. PubMed PMID: 18309480.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - A case of progressive osseous heteroplasia: a first case in Japan. AU - Kumagai,Kenji, AU - Motomura,Katsuaki, AU - Egashira,Masayuki, AU - Tomita,Masato, AU - Suzuki,Masahiko, AU - Uetani,Masataka, AU - Shindo,Hiroyuki, PY - 2007/09/28/received PY - 2008/01/21/accepted PY - 2007/12/06/revised PY - 2008/3/1/pubmed PY - 2008/10/10/medline PY - 2008/3/1/entrez SP - 563 EP - 7 JF - Skeletal radiology JO - Skeletal Radiol. VL - 37 IS - 6 N2 - Progressive osseous heteroplasia (POH) is a rare, hereditary, disorder (number 166350 in Mendelian Inheritance in Man), which was first identified in 1994 and is characterized by dermal ossification beginning in infancy as a result of increasing and extensive bone formation in deep muscle and fascia. We describe a boy with typical clinical, radiographic, and genetic features of POH. A nonsense mutation in exon 7 of the GNAS1 gene was identified in genomic DNA from the patient. No such case has been reported in East Asia or Japan before this patient. SN - 0364-2348 UR - https://www.unboundmedicine.com/medline/citation/18309480/A_case_of_progressive_osseous_heteroplasia:_a_first_case_in_Japan_ L2 - https://dx.doi.org/10.1007/s00256-008-0469-9 DB - PRIME DP - Unbound Medicine ER -