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Eulalie Lasseaux Selected Research

Urban Schosser Spohn syndrome

1/2020Hereditary Mucoepithelial Dysplasia Results from Heterozygous Variants at p.Arg557 Mutational Hotspot in SREBF1, Encoding a Transcription Factor Involved in Cholesterol Homeostasis.

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Eulalie Lasseaux Research Topics

Disease

3Hypopigmentation (Hypomelanosis)
01/2022 - 01/2019
2Albinism
01/2022 - 01/2019
1Eczema
01/2021
1Infections
01/2021
1Congenital, Hereditary, and Neonatal Diseases and Abnormalities (Congenital Disorders)
01/2021
1Oculocutaneous Albinism (Albinism, Yellow Mutant)
01/2021
1Severe Combined Immunodeficiency (Bare Lymphocyte Syndrome)
01/2021
1Urban Schosser Spohn syndrome
01/2020
1Neurodegenerative Diseases (Neurodegenerative Disease)
01/2020
1Leukoencephalopathies
01/2020
1Oculocutaneous albinism type 2
01/2019
1Photophobia (Light Sensitivity)
01/2019
1Ocular Albinism
01/2019

Drug/Important Bio-Agent (IBA)

2Retinaldehyde (Retinal)IBA
01/2021 - 01/2019
1Monophenol Monooxygenase (Tyrosinase)IBA
01/2022
1Melanins (Melanin)IBA
01/2022
1Proteins (Proteins, Gene)FDA Link
01/2022
1dopachrome isomeraseIBA
01/2021
1Immunoglobulin E (IgE)IBA
01/2021
1PhosphoglucomutaseIBA
01/2021
1CholesterolIBA
01/2020
1Eukaryotic Initiation Factor-2B (Eukaryotic Initiation Factor 2B)IBA
01/2020
1Transcription Factors (Transcription Factor)IBA
01/2020
1DNA (Deoxyribonucleic Acid)IBA
01/2019