IPSC reprogramming of two patients with spondyloepiphyseal dysplasia congenita (SEDC)

IPSC reprogramming of two patients with spondyloepiphyseal dysplasia congenita (SEDC)

Spondyloepiphyseal dysplasia congenita (SEDC) is a severe non-lethal type 2 collagenopathy caused by pathogenic variants in the COL2A1 gene, which encodes the alpha-1 chain of type II collagen. SEDC is clinically characterized by severe short stature, degenerative joint disease, hearing impairment,...

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Bibliographic Details
Main Authors: Pauline De Kinderen, Laura Rabaut, Melanie H.A.M. Perik, Silke Peeters, Peter Ponsaerts, Bart Loeys, Geert Mortier, Josephina A.N. Meester, Aline Verstraeten
Format: Article
Language:English
Published: Elsevier 2023-06-01
Series:Stem Cell Research
Online Access:http://www.sciencedirect.com/science/article/pii/S1873506123000661

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http://www.sciencedirect.com/science/article/pii/S1873506123000661

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