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Pathogenic Variants Affecting the TB5 Domain of the Fibrillin-1 Protein: Not Only in Geleophysic/acromicric Dysplasias but Also in Marfan Syndrome.

Pauline Arnaud,Zakaria Mougin,Genevieve Baujat,Valerie Drouin-Garraud,Salima El Chehadeh,Laurent Gouya,Sylvie Odent,Guillaume Jondeau,Catherine Boileau,Nadine Hanna,Carine Le Goff

JOURNAL OF MEDICAL GENETICS（2024）

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关键词
Marfan Syndrome,Fibrillin-1
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