In:
Human Genome Variation, Springer Science and Business Media LLC, Vol. 6, No. 1 ( 2019-04-12)
Abstract:
We analyzed two siblings in a Japanese family with delayed onset cone-rod dystrophy (CRD) using whole-exome sequencing. A novel frameshift c.1106dup (p.H370Afs*17) variant and a known missense c.2027 T 〉 A (p.I676N) variant in CDHR1 were identified. Both patients shared the same variants, although they displayed a significant difference in disease severity. A meta-analysis of the relationship between the severity and the variant type was performed using the reported cases in the literature and did not reveal a definitive correlation.
Type of Medium:
Online Resource
ISSN:
2054-345X
DOI:
10.1038/s41439-019-0048-8
Language:
English
Publisher:
Springer Science and Business Media LLC
Publication Date:
2019
detail.hit.zdb_id:
2863697-1
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