Whole‐genome sequencing revealed an interstitial deletion encompassing OCRL and SMARCA1 gene in a patient with Lowe syndrome

Abstract Background Lowe syndrome is a rare X‑linked syndrome that is characterized by involvement of the eyes, central nervous system, and kidneys. The aim of the present study was to determine the molecular basis of four patients with congenital cataract, infantile congenital hypotonia, and proxim...

Πλήρης περιγραφή

Λεπτομέρειες βιβλιογραφικής εγγραφής

Κύριοι συγγραφείς:	Bixia Zheng, Qiuxia Chen, Chunli Wang, Wei Zhou, Ying Chen, Guixia Ding, Zhanjun Jia, Aihua Zhang, SongMing Huang
Μορφή:	Artigo
Γλώσσα:	Inglês
Έκδοση:	Wiley 2019-09-01
Σειρά:	Molecular Genetics & Genomic Medicine
Θέματα:	CNVseq copy number variation Lowe syndrome OCRL gene
Διαθέσιμο Online:	https://doi.org/10.1002/mgg3.876
Ετικέτες:	Προσθήκη ετικέτας Δεν υπάρχουν, Καταχωρήστε ετικέτα πρώτοι!