Mutations in MEOX1, encoding mesenchyme homeobox 1, cause Klippel-Feil anomaly.
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Advances in Skeletal Dysplasia GeneticsGenetics and genomic medicine in Saudi ArabiaMutation in MEOX1 gene causes a recessive Klippel-Feil syndrome subtype.Spinal dermoid sinus in a Dachshund with vertebral and thoracic limb malformations.Novel cancer stem cell targets during epithelial to mesenchymal transition in PTEN-deficient trastuzumab-resistant breast cancerThe application of next-generation sequencing in the autozygosity mapping of human recessive diseases.The corticospinal tract: Evolution, development, and human disorders.A novel syndrome of Klippel-Feil anomaly, myopathy, and characteristic facies is linked to a null mutation in MYO18B.A case report of amyotrophic lateral sclerosis in a patient with Klippel-Feil syndrome—a familial occurrence: a potential role of TGF-β signaling pathway.Persistent neck pain in a girl: Klippel-Feil syndrome.The intriguing history of vertebral fusion anomalies: the Klippel-Feil syndrome.Meox1 accelerates myocardial hypertrophic decompensation through Gata4.Klippel–Feil Syndrome with Sprengel Deformity and Extensive Upper Extremity Deformity: A Case Report and Literature Review.Compound heterozygous mutations in RIPPLY2 associated with vertebral segmentation defects.Filamin B Loss-of-Function Mutation in Dimerization Domain Causes Autosomal-Recessive Spondylocarpotarsal Synostosis Syndrome with Rib Anomalies.Rare variants in the notch signaling pathway describe a novel type of autosomal recessive Klippel-Feil syndrome.A skeletal disorder in a dog resembling the Klippel-Feil Syndrome with Sprengel's Deformity in humans.Whole exome sequencing identifies a POLRID mutation segregating in a father and two daughters with findings of Klippel-Feil and Treacher Collins syndromes.
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P2860
Mutations in MEOX1, encoding mesenchyme homeobox 1, cause Klippel-Feil anomaly.
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2013 nî lūn-bûn
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2013年の論文
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2013年論文
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2013年論文
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2013年論文
@zh-hk
2013年論文
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2013年論文
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2013年论文
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2013年论文
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2013年论文
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name
Mutations in MEOX1, encoding mesenchyme homeobox 1, cause Klippel-Feil anomaly.
@ast
Mutations in MEOX1, encoding mesenchyme homeobox 1, cause Klippel-Feil anomaly.
@en
type
label
Mutations in MEOX1, encoding mesenchyme homeobox 1, cause Klippel-Feil anomaly.
@ast
Mutations in MEOX1, encoding mesenchyme homeobox 1, cause Klippel-Feil anomaly.
@en
prefLabel
Mutations in MEOX1, encoding mesenchyme homeobox 1, cause Klippel-Feil anomaly.
@ast
Mutations in MEOX1, encoding mesenchyme homeobox 1, cause Klippel-Feil anomaly.
@en
P2093
P2860
P1476
Mutations in MEOX1, encoding mesenchyme homeobox 1, cause Klippel-Feil anomaly.
@en
P2093
Abdulmonem Alsiddiky
Eissa Faqeih
Jawahir Y Mohamed
Muneera J Alshammari
Niema A Ibrahim
P2860
P304
P356
10.1016/J.AJHG.2012.11.016
P407
P577
2013-01-03T00:00:00Z