Whole exome sequencing identifies a heterozygous missense variant in the PRDM5 gene in a family with Axenfeld-Rieger syndrome.

Authors:
Micheal S; Siddiqui SN; Zafar SN; Venselaar H; Qamar R and 2 more

Journal:
Neurogenetics

Publication Year: 2015

DOI:
10.1007/s10048-015-0462-0

PMCID:
PMC4701771

PMID:
26489929

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Journal Information

Full Title: Neurogenetics

Abbreviation: Neurogenetics

Country: Unknown

Publisher: Unknown

Language: N/A

Publication Details

Subject Category: Neurology

Available in Europe PMC: Yes

Available in PMC: Yes

PDF Available: No

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Evidence found in paper:

"Conflict of interest The authors declare no conflict of interest."

Evidence found in paper:

"This study was supported by the Stichting Blindenhulp, a Shaffer grant from the Glaucoma Research Foundation, the Glaucoomfonds, Oogfonds, and the Algemene Nederlandse Vereniging ter Voorkoming van Blindheid (awarded to A. den Hollander and S. Micheal)."

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Last Updated: Aug 05, 2025