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Optic disc swelling in acromicric and geleophysic dysplasia.

作者信息

Moey Lip Hen, Flaherty Maree, Zankl Andreas

机构信息

Department of Clinical Genetics, The Children's Hospital at Westmead, Sydney, New South Wales, Australia.

Genetics Department, Kuala Lumpur Hospital, Kuala Lumpur, Malaysia.

出版信息

Am J Med Genet A. 2019 Sep;179(9):1898-1901. doi: 10.1002/ajmg.a.61268. Epub 2019 Jun 22.

DOI:10.1002/ajmg.a.61268
PMID:31228225
Abstract
摘要

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引用本文的文献

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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.8 岁男孩 FBN1 错义突变致严重皮肤表现的肢端纤维发育不良伴硬皮病样综合征：病例报告及文献复习
Mol Genet Genomic Med. 2020 Jul;8(7):e1282. doi: 10.1002/mgg3.1282. Epub 2020 May 14.