Publications:

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: Thr1761Ile

PubMed Link: 32406602

Variant Present in the following documents:

• Main text
• MGG3-8-e1282.pdf

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Acromicric Dysplasia Caused by a Novel Heterozygous Mutation of FBN1 and Effects of Growth Hormone Treatment.

Annals Of Laboratory Medicine

Jin, Hyung Suk HS; Song, Ho Young HY; Cho, Sung Yoon SY; Ki, Chang Seok CS; Yang, Song Hyun SH; Kim, Ok Hwa OH; Kim, Su Jin SJ

Publication Date: 2017-01

Variant appearance in text: FBN1: 5282C>T; Thr1761Ile

PubMed Link: 27834076

Variant Present in the following documents:

• Main text
• alm-37-92.pdf

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