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Progressive Pseudorheumatoid Dysplasia resolved by whole exome sequencing: a novel mutation in WISP3 and review of the literature

Crossref DOI link: https://doi.org/10.1186/s12881-019-0787-x

Published Online: 2019-03-29

Published Print: 2019-12

Update policy: https://doi.org/10.1007/springer_crossmark_policy

Authors

Pode-Shakked, Ben http://orcid.org/0000-0001-6017-9629
Vivante, Asaf

Barel, Ortal

Padeh, Shai

Marek-Yagel, Dina

Veber, Alvit

Abudi, Shachar

Eliyahu, Aviva

Tirosh, Irit

Shpilman, Shiri

Shril, Shirlee

Hildebrandt, Friedhelm

Shohat, Mordechai

Anikster, Yair
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Article History

Received: 19 November 2018

Accepted: 18 March 2019

First Online: 29 March 2019

Ethics approval and consent to participate

: Written, informed consent was obtained from the affected individuals or their legal guardians for both genetic analysis and publication of patients’ photographs and imaging studies. Approval for human subject research was obtained from the Institutional Review Boards of the Sheba Medical Center.

: Written, informed consent was obtained from the affected individuals or their legal guardians for genetic analysis, publication of the case reports and publication of patients’ photographs and imaging studies.

: The authors declare that they have no competing interests.

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