The expanding clinical phenotype of Bosch-Boonstra-Schaaf optic atrophy syndrome: 20 new cases and possible genotype-phenotype correlations.
about
Genetic disorders of nuclear receptors.Novel NR2F1 variants likely disrupt DNA binding: molecular modeling in two cases, review of published cases, genotype-phenotype correlation, and phenotypic expansion of the Bosch-Boonstra-Schaaf optic atrophy syndrome.Identification of diverse target RNAs that are functionally regulated by human Pumilio proteins.
P2860
The expanding clinical phenotype of Bosch-Boonstra-Schaaf optic atrophy syndrome: 20 new cases and possible genotype-phenotype correlations.
description
2016 nî lūn-bûn
@nan
2016年の論文
@ja
2016年論文
@yue
2016年論文
@zh-hant
2016年論文
@zh-hk
2016年論文
@zh-mo
2016年論文
@zh-tw
2016年论文
@wuu
2016年论文
@zh
2016年论文
@zh-cn
name
The expanding clinical phenoty ...... notype-phenotype correlations.
@en
type
label
The expanding clinical phenoty ...... notype-phenotype correlations.
@en
prefLabel
The expanding clinical phenoty ...... notype-phenotype correlations.
@en
P2093
P2860
P50
P356
P1433
P1476
The expanding clinical phenoty ...... notype-phenotype correlations.
@en
P2093
Allison Schreiber
Cheri Schoonveld
Chun-An Chen
Daniëlle G M Bosch
Dianalee McKnight
Elfrida Malkin
Fran Kendall
Frances Elmslie
Francisca Millan
Frans P M Cremers
P2860
P2888
P304
P356
10.1038/GIM.2016.18
P407
P50
P577
2016-03-17T00:00:00Z
P6179
1013194782