Whole-exome sequencing identified a homozygous FNBP4 mutation in a family with a condition similar to microphthalmia with limb anomalies
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Heterozygous loss-of-function mutations in YAP1 cause both isolated and syndromic optic fissure closure defectsWhole exome analysis identifies dominant COL4A1 mutations in patients with complex ocular phenotypes involving microphthalmiaMutations in MAB21L2 result in ocular Coloboma, microcornea and cataractsA novel PITX2 mutation causing iris hypoplasia.The Evaluation of WBP2NL-Related Genes Expression in Breast Cancer.A homozygous mutation in a consanguineous family consolidates the role of ALDH1A3 in autosomal recessive microphthalmia.
P2860
Whole-exome sequencing identified a homozygous FNBP4 mutation in a family with a condition similar to microphthalmia with limb anomalies
description
im Juli 2013 veröffentlichter wissenschaftlicher Artikel
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wetenschappelijk artikel
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наукова стаття, опублікована в липні 2013
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name
Whole-exome sequencing identif ...... ophthalmia with limb anomalies
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Whole-exome sequencing identif ...... ophthalmia with limb anomalies
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type
label
Whole-exome sequencing identif ...... ophthalmia with limb anomalies
@en
Whole-exome sequencing identif ...... ophthalmia with limb anomalies
@nl
prefLabel
Whole-exome sequencing identif ...... ophthalmia with limb anomalies
@en
Whole-exome sequencing identif ...... ophthalmia with limb anomalies
@nl
P2093
P2860
P356
P1476
Whole-exome sequencing identif ...... ophthalmia with limb anomalies
@en
P2093
Andre Megarbane
Eriko Koshimizu
Haruka Hamanoue
Hirofumi Kodera
Hiroshi Doi
Ippei Okada
Kiyomi Nishiyama
Mitsuko Nakashima
Naomichi Matsumoto
Noriko Miyake
P2860
P304
P356
10.1002/AJMG.A.35983
P407
P577
2013-07-01T00:00:00Z