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Updated: May 1, 2026

A Novel Strategy Combining Array-CGH, Whole-exome Sequencing and In Utero Electroporation in Rodents to Identify Causative Genes for Brain Malformations
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Clinical features and mutation of NPHP5 in two Chinese siblings with Senior-Løken syndrome

Huajuan Tong1, Zhihui Yue, Liangzhong Sun

  • 1Department of Paediatrics, the First Affiliated Hospital, Sun Yat-Sen University, Guangzhou, China.

Nephrology (Carlton, Vic.)
|March 29, 2014
PubMed

Keywords:
Leber's congenital amaurosisNPHP5Senior-Løken syndromenephrocystin-5nephronophthisis

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