Expanding the genotypic spectrum of Perrault syndrome.

Expanding the genotypic spectrum of Perrault syndrome.

Item
http://www.wikidata.org/entity/Q50316898
Novel neuro-audiological findings and further evidence for TWNK involvement in Perrault syndrome.Heterozygous mutations in HSD17B4 cause juvenile peroxisomal D-bifunctional protein deficiency.Specific MRI Abnormalities Reveal Severe Perrault Syndrome due to CLPP Defects.Unresolved questions regarding human hereditary deafness.An Application of NGS for Molecular Investigations in Perrault Syndrome: Study of 14 Families and Review of the Literature.Genetics of mitochondrial dysfunction and infertility.A homozygous missense variant in HSD17B4 identified in a consanguineous Chinese Han family with type II Perrault syndrome.Mutations of SGO2 and CLDN14 collectively cause coincidental Perrault syndrome.Recent developments in genetics and medically assisted reproduction: from research to clinical applicationsPerrault syndrome type 3 caused by diverse molecular defects in CLPP
P2860

Expanding the genotypic spectrum of Perrault syndrome.

Item
http://www.wikidata.org/entity/Q50316898
description
2016 nî lūn-bûn
@nan
2016年の論文
@ja
2016年学术文章
@wuu
2016年学术文章
@zh
2016年学术文章
@zh-cn
2016年学术文章
@zh-hans
2016年学术文章
@zh-my
2016年学术文章
@zh-sg
2016年學術文章
@yue
2016年學術文章
@zh-hant
name
Expanding the genotypic spectrum of Perrault syndrome.
@en
Expanding the genotypic spectrum of Perrault syndrome.
@nl
type
label
Expanding the genotypic spectrum of Perrault syndrome.
@en
Expanding the genotypic spectrum of Perrault syndrome.
@nl
prefLabel
Expanding the genotypic spectrum of Perrault syndrome.
@en
Expanding the genotypic spectrum of Perrault syndrome.
@nl
P1433
P1476
P2093
P2860
P304
P31
P356
P433
P478
P50
P577
P698
P356
P1433
P1476
Expanding the genotypic spectrum of Perrault syndrome
@en
P2093
P2860
P304
P31
P356
P433
P478
P50
P577
P698