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Novel COL5A1 mutation in a Chinese family with classic type of Ehlers-Danlos syndrome
The Journal of Dermatology
◽
10.1111/1346-8138.13964
◽
2017
◽
Vol 45
(3)
◽
pp. 370-371
Author(s):
Dandan Mao
◽
Zhanglei Mu
◽
Yue Yang
◽
Leqing Cao
◽
Qianxi Xu
◽
...
Keyword(s):
Chinese Family
◽
Ehlers Danlos Syndrome
◽
Danlos Syndrome
Download Full-text
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References
Heterozygous mutation of c.3521C>T in COL1A1 may cause mild osteogenesis imperfecta/Ehlers-Danlos syndrome in a Chinese family
Intractable & Rare Diseases Research
◽
10.5582/irdr.2014.01039
◽
2015
◽
Vol 4
(1)
◽
pp. 49-53
◽
Cited By ~ 5
Author(s):
Xianlong Shi
◽
Yanqin Lu
◽
Yanzhou Wang
◽
Yu-ang Zhang
◽
Yuanwei Teng
◽
...
Keyword(s):
Osteogenesis Imperfecta
◽
Chinese Family
◽
Heterozygous Mutation
◽
Ehlers Danlos Syndrome
◽
Danlos Syndrome
Download Full-text
A Chinese family with periodontal Ehlers-Danlos syndrome associated with missense mutation in the C1R gene
Journal Of Clinical Periodontology
◽
10.1111/jcpe.12988
◽
2018
◽
Vol 45
(11)
◽
pp. 1311-1318
Author(s):
Juan Wu
◽
Jie Yang
◽
Jie Zhao
◽
Jingrong Wu
◽
Xuan Zhang
◽
...
Keyword(s):
Missense Mutation
◽
Chinese Family
◽
Ehlers Danlos Syndrome
◽
Danlos Syndrome
Download Full-text
Identification of a missense mutation of COL3A1 in a Chinese family with atypical Ehlers-Danlos syndrome using targeted next-generation sequencing
Molecular Medicine Reports
◽
10.3892/mmr.2016.6082
◽
2016
◽
Vol 15
(2)
◽
pp. 936-940
◽
Cited By ~ 2
Author(s):
Wenwen Zhang
◽
Qian Han
◽
Min Zhou
◽
Feng Ran
◽
Tong Qiao
◽
...
Keyword(s):
Next Generation Sequencing
◽
Missense Mutation
◽
Chinese Family
◽
Next Generation
◽
Ehlers Danlos Syndrome
◽
Targeted Next Generation Sequencing
◽
Danlos Syndrome
◽
Generation Sequencing
Download Full-text
Novel missense mutation in theCOL3A1gene caused vascular Ehlers-Danlos syndrome in a Chinese family
The Journal of Dermatology
◽
10.1111/1346-8138.12696
◽
2014
◽
Vol 42
(1)
◽
pp. 95-96
Author(s):
Fang He
◽
Xianwei Wang
◽
Xinzhang Cai
◽
Hao Peng
◽
Lusi Zhang
◽
...
Keyword(s):
Missense Mutation
◽
Chinese Family
◽
Ehlers Danlos Syndrome
◽
Danlos Syndrome
Download Full-text
Two closely spaced missense COL3A1 variants in cis cause vascular Ehlers‐Danlos syndrome in one large Chinese family
Journal of Cellular and Molecular Medicine
◽
10.1111/jcmm.17063
◽
2021
◽
Author(s):
Mei Liang
◽
Chong Chen
◽
Yan Dai
◽
Yunbing Chang
◽
Yushun Gao
Keyword(s):
Chinese Family
◽
Ehlers Danlos Syndrome
◽
In Cis
◽
Danlos Syndrome
Download Full-text
Ehlers-Danlos Syndrome, Kyphoscoliotic Type (Formerly Type VI) as Differential Diagnosis to Neuromuscular Diseases
Neuropediatrics
◽
10.1055/s-0036-1583739
◽
2016
◽
Vol 47
(S 01)
◽
Author(s):
M. Schroth
◽
C. Reihle
◽
M. Wachowsky
◽
L. Travan
◽
M. Buob
◽
...
Keyword(s):
Differential Diagnosis
◽
Neuromuscular Diseases
◽
Ehlers Danlos Syndrome
◽
Danlos Syndrome
Download Full-text
Enterotomy Repair Using Polyglactin 910 Polyglactin 910 (Vicryl) Pledgets in Young Male with Type IV Ehlers Danlos Syndrome
Journal of Surgery and Research
◽
10.26502/jsr.10020076
◽
2020
◽
Vol 03
(03)
◽
Author(s):
Vedant N. Singh
◽
R Stephen Smith
Keyword(s):
Young Male
◽
Polyglactin 910
◽
Ehlers Danlos Syndrome
◽
Type Iv
◽
Danlos Syndrome
Download Full-text
Registry of Ehlers-Danlos Syndrome
Case Medical Research
◽
10.31525/ct1-nct04133272
◽
2019
◽
Author(s):
Keyword(s):
Ehlers Danlos Syndrome
◽
Danlos Syndrome
Download Full-text
Faculty Opinions recommendation of Tenascin-X haploinsufficiency associated with Ehlers-Danlos syndrome in patients with congenital adrenal hyperplasia.
Faculty Opinions – Post-Publication Peer Review of the Biomedical Literature
◽
10.3410/f.717972991.793469800
◽
2013
◽
Author(s):
Phyllis Speiser
Keyword(s):
Congenital Adrenal Hyperplasia
◽
Adrenal Hyperplasia
◽
Ehlers Danlos Syndrome
◽
Danlos Syndrome
Download Full-text
Faculty Opinions recommendation of Ehlers Danlos syndrome and gastrointestinal manifestations: a 20-year experience at Mayo Clinic.
Faculty Opinions – Post-Publication Peer Review of the Biomedical Literature
◽
10.3410/f.725794822.793510256
◽
2015
◽
Author(s):
Adam Farmer
Keyword(s):
Mayo Clinic
◽
Ehlers Danlos Syndrome
◽
Gastrointestinal Manifestations
◽
Danlos Syndrome
Download Full-text
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