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Lore Pottie

Ghent University Hospital

Cutis laxa
Biology
Elastic fiber
Extracellular matrix
Connective tissue

5

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16

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Loss-of-Function Variants in EFEMP1 Cause a Recognizable Connective Tissue Disorder Characterized by Cutis Laxa and Multiple Herniations.

2021 Genes
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Defining the Clinical, Molecular and Ultrastructural Characteristics in Occipital Horn Syndrome: Two New Cases and Review of the Literature

2019 Genes
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Citations (16)

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