Sara Benito-Sanz Selected Research

Aggrecan Type Spondyloepimetaphyseal Dysplasia

1/2018

Heterozygous aggrecan variants are associated with short stature and brachydactyly: Description of 16 probands and a review of the literature.

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Sara Benito-Sanz Research Topics

Disease

1	Congenital Adrenal Hyperplasia (Hyperplasia, Congenital Adrenal) 01/2020
1	Disorders of Sex Development (Intersexuality) 01/2020
1	Osteochondritis Dissecans 01/2018
1	Kimberley Type Spondyloepiphyseal Dysplasia 01/2018
1	Aggrecan Type Spondyloepimetaphyseal Dysplasia 01/2018
1	Achondroplasia 01/2018
1	Brachydactyly 01/2018
1	Craniosynostoses (Craniosynostosis) 07/2015
1	Osteosarcoma (Osteogenic Sarcoma) 07/2012
1	Pseudoachondroplasia 05/2007

Drug/Important Bio-Agent (IBA)

1	Oxidoreductases (Dehydrogenase)IBA 01/2020
1	Cytochrome P-450 Enzyme System (Cytochrome P450)IBA 01/2020
1	C 73IBA 01/2020
1	Proteins (Proteins, Gene)FDA Link 01/2018
1	Aggrecans (Aggrecan)IBA 01/2018
1	Ephrin-B1 (Ephrin B1)IBA 07/2015
1	LuciferasesIBA 07/2012
1	Cartilage Oligomeric Matrix ProteinIBA 05/2007

Therapy/Procedure

1	Sutures (Suture) 07/2015