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Aurélie Plancke

7

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Muscle and Bone Impairment in Children With Marfan Syndrome: Correlation With Age and FBN1 Genotype.

2015 Journal of Bone and Mineral Research
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Missense mutations of conserved glycine residues in fibrillin-1 highlight a potential subtype of cb-EGF-like domains†

2010 Human Mutation
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De novo 15q21.1q21.2 deletion identified through FBN1 MLPA and refined by 244K array-CGH in a female teenager with incomplete Marfan syndrome.

2010 European Journal of Medical Genetics
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Homozygosity for a null allele of COL3A1 results in recessive Ehlers–Danlos syndrome

2009 European Journal of Human Genetics
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