Terminal deletion of 6p results in a recognizable phenotype.
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Axenfeld-Rieger anomaly and Axenfeld-Rieger syndrome: clinical, molecular-cytogenetic, and DNA array analyses of three patients with chromosomal defects at 6p25Prenatal diagnosis of 'isolated' Dandy-Walker malformation: imaging findings and prenatal counsellingFOXC1 is required for normal cerebellar development and is a major contributor to chromosome 6p25.3 Dandy-Walker malformationThe Human Proteome Organization Chromosome 6 Consortium: integrating chromosome-centric and biology/disease driven strategiesChromosome abnormalities and the genetics of congenital corneal opacification.Haploinsufficiency and triploinsensitivity of the same 6p25.1p24.3 region in a familyDeletions in chromosome 6p22.3-p24.3, including ATXN1, are associated with developmental delay and autism spectrum disorders22q11.2 Deletion Syndrome due to a Translocation t(6;22) in a Patient Conceived via in vitro Fertilization.Genomic microarrays in mental retardation: a practical workflow for diagnostic applications.Chromosome 6p25 deletion syndrome: report of a case with optic disc coloboma and review of published ophthalmic findings.Hearing loss in hydrocephalus: a review, with focus on mechanisms.The 6p25 deletion syndrome: An update on a rare neurocristopathy.Phenotype of a Belgian Family With 6p25 Deletion Syndrome.A complex 6p25 rearrangement in a child with multiple epiphyseal dysplasia.Ophthalmological Findings in 6p Deletion Syndrome.Periventricular heterotopia with white matter abnormalities associated with 6p25 deletion
P2860
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P2860
Terminal deletion of 6p results in a recognizable phenotype.
description
2005 nî lūn-bûn
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2005年の論文
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2005年学术文章
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2005年学术文章
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2005年学术文章
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2005年学术文章
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2005年学术文章
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2005年學術文章
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name
Terminal deletion of 6p results in a recognizable phenotype.
@en
Terminal deletion of 6p results in a recognizable phenotype.
@nl
type
label
Terminal deletion of 6p results in a recognizable phenotype.
@en
Terminal deletion of 6p results in a recognizable phenotype.
@nl
prefLabel
Terminal deletion of 6p results in a recognizable phenotype.
@en
Terminal deletion of 6p results in a recognizable phenotype.
@nl
P2093
P356
P1476
Terminal deletion of 6p results in a recognizable phenotype
@en
P2093
Athena M Cherry
Kelly C Chen
Louanne Hudgins
Michael Lyons
Ruth J Lin
P304
P356
10.1002/AJMG.A.30784
P407
P50
P577
2005-07-01T00:00:00Z