A new concept of skeletal dysplasias [PDF]
, 2004 The skeletal dysplasias form a large group of hereditary disorders characterized by abnormal growth and malformations of bone and cartilage. The clinical severity ranges from mildly affected short stature to lethal forms.
Beyhan Tüysüz
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A novel COL11A1 missense mutation in siblings with non-ocular Stickler syndrome [PDF]
, 2016 Stickler syndrome (STL) is an autosomal, dominantly inherited, clinically variable and genetically heterogeneous connective tissue disorder characterized by ocular, auditory, orofacial and skeletal abnormalities.
00457318 +35 more
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Progressive joint limitations as the first alarming signs in a boy with short – limbed dwarfism: A case report [PDF]
, 2008 Ali Al Kaissi +17 more
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Effects of Bone Morphogenetic Protein-2 and Parathyroid Hormone-Related Peptide on Collagen XI During Skeletal Development [PDF]
, 2015 Long bones develop via endochondral ossification, a process in which cartilage precedes bone. During endochondral ossification prechondrogenic cells undergo proliferation and apoptose as cells of the periosteum differentiate into bone.
Shefa, Neda
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New surgical techniques and social media in orthopaedics. Is a scientific peer-reviewed journal assimilated to a social media platform? [PDF]
Int Orthop, 2023 Scarlat MM +3 more
europepmc +1 more source
Evaluation of hydrocephalus and other cerebrospinal fluid disorders with MRI: An update [PDF]
, 2014 core +1 more source
Clinical and genetic profiles of 985 Chinese families with skeletal dysplasia. [PDF]
Chin Med J (Engl), 2023 Li S +6 more
europepmc +1 more source
The role of the adaptor proteins collagen IX, COMP and matrilin-3 in cartilage extracellular matrix assembly and chondrocyte behavior [PDF]
, 2012 Xin, Wei
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Skeletal Dysplasias of the Human Fetus: Postmortem Diagnosis [PDF]
, 2012 Anastasia Konstantinidou
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