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A cohort of 17 patients with kyphoscoliotic Ehlers-Danlos syndrome caused by biallelic mutations in FKBP14: expansion of the clinical and mutational spectrum and description of the natural history.Expanding the clinical and mutational spectrum of B4GALT7-spondylodysplastic Ehlers-Danlos syndrome.Differences in manifestations of Marfan syndrome, Ehlers-Danlos syndrome, and Loeys-Dietz syndrome.Periodontal manifestations of Ehlers-Danlos syndromes: A systematic review.ZIP13: A Study of Drosophila Offers an Alternative Explanation for the Corresponding Human Disease.Novel Nonsense Mutation in SLC39A13 Initially Presenting as Myopathy: Case Report and Review of the Literature.Ehlers-Danlos syndromes: state of the art on clinical practice guidelines
P2860
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P2860
description
2017 nî lūn-bûn
@nan
2017年の論文
@ja
2017年論文
@yue
2017年論文
@zh-hant
2017年論文
@zh-hk
2017年論文
@zh-mo
2017年論文
@zh-tw
2017年论文
@wuu
2017年论文
@zh
2017年论文
@zh-cn
name
The Ehlers-Danlos syndromes, rare types.
@en
type
label
The Ehlers-Danlos syndromes, rare types.
@en
prefLabel
The Ehlers-Danlos syndromes, rare types.
@en
P2093
P2860
P50
P356
P1476
The Ehlers-Danlos syndromes, rare types.
@en
P2093
Angela F Brady
Anthony Vandersteen
Caroline van Mourik
Cecilia Giunta
Ines Kapferer-Seebacher
Johannes Zschocke
Marianne Rohrbach
Michael F Pope
Neeti Ghali
Nicol Voermans
P2860
P304
P356
10.1002/AJMG.C.31550
P577
2017-03-01T00:00:00Z