Exome sequencing in 32 patients with anophthalmia/microphthalmia and developmental eye defects.

Exome sequencing in 32 patients with anophthalmia/microphthalmia and developmental eye defects.

Item
http://www.wikidata.org/entity/Q35674974
Novel compound heterozygous mutations of ALDH1A3 contribute to anophthalmia in a non-consanguineous Chinese familyMitochondrial transcript maturation and its disordersStrain-Dependent Anterior Segment Dysgenesis and Progression to Glaucoma in Col4a1 Mutant Mice.denovo-db: a compendium of human de novo variants.Genetics of Combined Pituitary Hormone Deficiency: Roadmap into the Genome Era.Mechanisms of Photoreceptor Patterning in Vertebrates and InvertebratesGenotype-phenotype correlations in pathology caused by collagen type IV alpha 1 and 2 mutations.Genetic disorders of nuclear receptors.Improved diagnostic yield of neuromuscular disorders applying clinical exome sequencing in patients arising from a consanguineous population.Two missense mutations in SALL4 in a patient with microphthalmia, coloboma, and optic nerve hypoplasia.Panel-based whole exome sequencing identifies novel mutations in microphthalmia and anophthalmia patients showing complex Mendelian inheritance patterns.A recurrent, non-penetrant sequence variant, p.Arg266Cys in Growth/Differentiation Factor 3 (GDF3) in a female with unilateral anophthalmia and skeletal anomalies.Novel biallelic mutations in the PNPT1 gene encoding a mitochondrial-RNA-import protein PNPase cause delayed myelination.Further delineation of the GDF6 related multiple synostoses syndrome.
P2860

Exome sequencing in 32 patients with anophthalmia/microphthalmia and developmental eye defects.

Item
http://www.wikidata.org/entity/Q35674974
description
2014 nî lūn-bûn
@nan
2014年の論文
@ja
2014年論文
@yue
2014年論文
@zh-hant
2014年論文
@zh-hk
2014年論文
@zh-mo
2014年論文
@zh-tw
2014年论文
@wuu
2014年论文
@zh
2014年论文
@zh-cn
name
Exome sequencing in 32 patient ...... and developmental eye defects.
@ast
Exome sequencing in 32 patient ...... and developmental eye defects.
@en
type
label
Exome sequencing in 32 patient ...... and developmental eye defects.
@ast
Exome sequencing in 32 patient ...... and developmental eye defects.
@en
prefLabel
Exome sequencing in 32 patient ...... and developmental eye defects.
@ast
Exome sequencing in 32 patient ...... and developmental eye defects.
@en
P1433
P1476
P2093
P2860
P304
P31
P356
P433
P478
P577
P5875
P698
P932
P356
P1433
P1476
Exome sequencing in 32 patient ...... and developmental eye defects.
@en
P2093
P2860
P304
P31
P356
P433
P478
P577
P5875
P698
P932