Publications:

Geleophysic dysplasia caused by a mutation in FBN1: A case report.

World Journal Of Clinical Cases

Tao, Ying Y; Wei, Qing Q; Chen, Xun X; Nong, Guang-Min GM

Publication Date: 2021-08-26

Variant appearance in text: FBN1: 5242T>C; C1748R

PubMed Link: 34540975

Variant Present in the following documents:

• Main text
• WJCC-9-7175.pdf

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Acromicric dysplasia with stiff skin syndrome-like severe cutaneous presentation in an 8-year-old boy with a missense FBN1 mutation: Case report and literature review.

Molecular Genetics & Genomic Medicine

Wang, Tao T; Yang, Yuyan Y; Dong, Qi Q; Zhu, Huijuan H; Liu, Yuehua Y

Publication Date: 2020-07

Variant appearance in text: FBN1: 5242T>C; Cys1748Arg

PubMed Link: 32406602

Variant Present in the following documents:

• Main text
• MGG3-8-e1282.pdf

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The Clinical Cases of Geleophysic Dysplasia: One Gene, Different Phenotypes.

Case Reports In Endocrinology

Globa, Evgenia E; Zelinska, Nataliya N; Dauber, Andrew A

Publication Date: 2018

Variant appearance in text: FBN1: Cys1748Arg

PubMed Link: 30057829

Variant Present in the following documents:

• Main text
• CRIE2018-8212417.pdf

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A microfibril assembly assay identifies different mechanisms of dominance underlying Marfan syndrome, stiff skin syndrome and acromelic dysplasias.

Human Molecular Genetics

Jensen, Sacha A SA; Iqbal, Sarah S; Bulsiewicz, Alicja A; Handford, Penny A PA

Publication Date: 2015-08-01

Variant appearance in text: FBN1: C1748R

PubMed Link: 25979247

Variant Present in the following documents:

• Main text
• ddv181.pdf

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Missense mutations in FBN1 exons 41 and 42 cause Weill-Marchesani syndrome with thoracic aortic disease and Marfan syndrome.

American Journal Of Medical Genetics. Part A

Cecchi, Alana A; Ogawa, Naomi N; Martinez, Hugo R HR; Carlson, Alicia A; Fan, Yuxin Y; Penny, Daniel J DJ; Guo, Dong-chuan DC; Eisenberg, Steven S; Safi, Hazim H; Estrera, Anthony A; Lewis, Richard A RA; Meyers, Deborah D; Milewicz, Dianna M DM

Publication Date: 2013-09

Variant appearance in text: FBN1: 5242T>C; C1748R

PubMed Link: 23897642

Variant Present in the following documents:

• Main text

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