A Novel COMP Mutated Allele Identified in a Chinese Family with Pseudoachondroplasia
BioMed Research International, Volume 2021, Issue 1, 2021., 2021 Pseudoachondroplasia (PSACH) is an autosomal dominant skeletal dysplasia with an estimated incidence of ~1/60000 that is characterized by disproportionate short stature, brachydactyly, joint laxity, and early‐onset osteoarthritis. COMP encodes the cartilage oligomeric matrix protein, which is expressed predominantly in the extracellular matrix (ECM ...
Bing-Bing Guo +5 more
wiley +1 more source
Imaging aspects of Camurati-Engelmann disease [PDF]
, 2016 Hosp Estadual Vila Alpina, Diagnost Imaging Serv 2, Luiz Roberto Barata Barradas Specialist Med Outpa, Sao Paulo, SP, BrazilHosp AC Camargo Canc Ctr, Sao Paulo, SP, BrazilPrefeitura Municipal Barueri, Barueri, SP, BrazilHosp Estadual Vila Alpina ...
Dias, Gustavo +4 more
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Therapie der blanden Struma: Erfahrungen mit einer Kombination von 100 µg L-Thyroxin und 10 µg L-Trijodthyronin [PDF]
, 1981 Dtsch med Wochenschr 1981; 106: 579-583 DOI: 10.1055/s-2008-1070359 © Georg Thieme Verlag KG Stuttgart · New York Therapie der blanden Struma: Erfahrungen mit einer Kombination von 100 µg L-Thyroxin und 10 µg L-Trijodthyronin Treatment of non-
Gärtner, Roland +7 more
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An LRP6 mutation (Arg360His) associated with low bone mineral density but not cardiovascular events in a caucasian family [PDF]
, 2022 We present a family with a rare mutation of the LRP6 gene and for the first time provide evidence for its association with low bone mineral density. Introduction: The Wnt pathway plays a critical role in bone homeostasis.
Fernández Luna, José Luis +4 more
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Camurati-Engelmann disease: case report [PDF]
, 2009 Objetivos: Fornecer informações sobre a doença de Camurati-Engelmann, também conhecida como Displasia Diafisária Progressiva, possibilitando o seu diagnóstico pelo profissional de saúde. Método: Relato de caso associado a revisão da literatura científica
Fernandes, Gisele Cristine Dyonísio +5 more
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The Role of Mutations on Gene TGFB1 in Camurati Engelmann Syndrome
International Journal of Cancer Research & Therapy, 2021 Camurati-Engelmann disease (CED) is characterized by increased bone density primarily affecting the long bones of the arms and legs and the skull. The thickening of these bones leads to pain, a waddling gait, muscle weakness, and extreme fatigue. Increased density of the skull can cause a variety of neurological deficits such as headaches, hearing loss,
openaire +1 more source
Camurati-Engelmann disease [PDF]
, 2011 Camurati-Engelmann disease (CED), or progressive diaphyseal dysplasia, is a rare sclerosing dysplasia of which 250 cases have been described in the English literature.
Georg Wagener, Neil Bellew
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Das Camurati-Engelmann-Syndrom, eine seltene Knochenstoffwechselstörung
, 2016 Deutscher Kongress für Orthopädie und Unfallchirurgie (DKOU 2016)
Pfränger, J +5 more
openaire +2 more sources
Excess TGF-β Induces MMP-9 and SPP-1 Expression in the Skeletal Muscle of Cancer Patients with Bone Metastases: Association with Muscle Dysfunction [PDF]
, 2023 https://openworks.mdanderson.org/sumexp23/1052/thumbnail ...
Cao, Xu +5 more
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Osteopetrosis and Its Relevance for the Discovery of New Functions Associated with the Skeleton
International Journal of Endocrinology, Volume 2015, Issue 1, 2015., 2015 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.
Amélie E. Coudert +4 more
wiley +1 more source