Beyens, A., Adamo, C., Gulec, E. Yilmaz, Gezdirici, A., Bonaldo, P., Bornaun, H., Brauchle, E., Brinckmann, J., Devine, W. P., Gangaram, B., Sasaki, T., Schenke-Layland, K., Symoens, S., Tam, A., Sengle, G. and Callewaert, B. (2020). Homozygous EMILIN1 loss-of-function variants impair both elastin and collagen fiber formation and cause a novel entity with arterial tortuosity and osteopenia. Eur. J. Hum. Genet., 28 (SUPPL 1). S. 132 - 134. LONDON: SPRINGERNATURE. ISSN 1476-5438

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Item Type: Journal Article
Creators:
CreatorsEmailORCIDORCID Put Code
Beyens, A.UNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Adamo, C.UNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Gulec, E. YilmazUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Gezdirici, A.UNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Bonaldo, P.UNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Bornaun, H.UNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Brauchle, E.UNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Brinckmann, J.UNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Devine, W. P.UNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Gangaram, B.UNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Sasaki, T.UNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Schenke-Layland, K.UNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Symoens, S.UNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Tam, A.UNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Sengle, G.UNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Callewaert, B.UNSPECIFIEDUNSPECIFIEDUNSPECIFIED
URN: urn:nbn:de:hbz:38-308985
Journal or Publication Title: Eur. J. Hum. Genet.
Volume: 28
Number: SUPPL 1
Page Range: S. 132 - 134
Date: 2020
Publisher: SPRINGERNATURE
Place of Publication: LONDON
ISSN: 1476-5438
Language: English
Faculty: Unspecified
Divisions: Unspecified
Subjects: no entry
Uncontrolled Keywords:
KeywordsLanguage
Biochemistry & Molecular Biology; Genetics & HeredityMultiple languages
URI: http://kups.ub.uni-koeln.de/id/eprint/30898

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