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Neeti Ghali Selected Research

Type IV Ehlers-Danlos Syndrome

5/2022Atypical variants in COL1A1 and COL3A1 associated with classical and vascular Ehlers-Danlos syndrome overlap phenotypes: expanding the clinical phenotype based on additional case reports.
1/2019Atypical COL3A1 variants (glutamic acid to lysine) cause vascular Ehlers-Danlos syndrome with a consistent phenotype of tissue fragility and skin hyperextensibility.
8/2015Clinical, structural, biochemical and X-ray crystallographic correlates of pathogenicity for variants in the C-propeptide region of the COL3A1 gene.

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Neeti Ghali Research Topics

Disease

3Type IV Ehlers-Danlos Syndrome
05/2022 - 08/2015
1Periodontitis
01/2021
1Intellectual Disability (Idiocy)
01/2018
1Osteogenesis Imperfecta (Lobstein Disease)
08/2015
1Protein Deficiency
08/2015
1Rupture
08/2015

Drug/Important Bio-Agent (IBA)

2Lysine (L-Lysine)FDA Link
05/2022 - 01/2019
2Glutamic Acid (Glutamate)FDA Link
05/2022 - 01/2019
2CollagenIBA
05/2022 - 08/2015
1Glycine (Aminoacetic Acid)FDA LinkGeneric
05/2022
1HemosiderinIBA
01/2021
1Casein Kinase II (Casein Kinase 2)IBA
01/2018
1alpha2 Subunit Collagen Type IIBA
08/2015
1Collagen Type III (Type III Collagen)IBA
08/2015