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Novel pathogenic OCRL mutations and genotype–phenotype analysis of Chinese children affected by oculocerebrorenal syndrome: two cases and a literature review

Crossref DOI link: https://doi.org/10.1186/s12920-021-01069-9

Published Online: 2021-09-06

Published Print: 2021-12

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

Authors

Zhang, Yu

Deng, Linxia

Chen, Xiaohong

Hu, Yingjie

Chen, Yaxian

Chen, Kang

Zhou, Jianhua https://orcid.org/0000-0002-2468-4131
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Text and Data Mining valid from 2021-09-06

Version of Record valid from 2021-09-06
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Article History

Received: 28 December 2020

Accepted: 27 August 2021

First Online: 6 September 2021

Declarations

:

: This study was approved by the Ethical Committee of Tongji Hospital. Written informed consents were obtained from the parents of each pediatric patient (younger than 16 years old) for genetic and pathological investigation. Written informed consents were also obtained from each adult participant for genetic investigation.

: The parents of each patient provided written consents for the publication of this study. Written consent documents regarding photographs, clinical and genetic details have been obtained from the parents of each patient.

: The authors declare no competing interests.

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