Chromosome 15q24 microdeletion syndrome.

Item

http://www.wikidata.org/entity/Q35744734

description

2012 nî lūn-bûn

@nan

2012年の論文

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2012年論文

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2012年論文

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2012年論文

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2012年論文

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2012年論文

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2012年论文

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2012年论文

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2012年论文

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name

Chromosome 15q24 microdeletion syndrome.

@ast

Chromosome 15q24 microdeletion syndrome.

@en

type

Item

label

Chromosome 15q24 microdeletion syndrome.

@ast

Chromosome 15q24 microdeletion syndrome.

@en

prefLabel

Chromosome 15q24 microdeletion syndrome.

@ast

Chromosome 15q24 microdeletion syndrome.

@en

P1476

Chromosome 15q24 microdeletion syndrome.

@en

P2093

Ayman W El-Hattab

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Pilar L Magoulas

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P275

Creative Commons Attribution 2.0 Generic

P2860

Mechanisms of change in gene copy number

Mutations in STRA6 cause a broad spectrum of malformations including anophthalmia, congenital heart defects, diaphragmatic hernia, alveolar capillary dysplasia, lung hypoplasia, and mental retardation

Structural variation of chromosomes in autism spectrum disorder

A copy number variation morbidity map of developmental delay

A microhomology-mediated break-induced replication model for the origin of human copy number variation.

A recurrent 16p12.1 microdeletion supports a two-hit model for severe developmental delay.

A large-scale survey of the novel 15q24 microdeletion syndrome in autism spectrum disorders identifies an atypical deletion that narrows the critical region.

DNA rearrangements on both homologues of chromosome 17 in a mildly delayed individual with a family history of autosomal dominant carpal tunnel syndrome

The DNA replication FoSTeS/MMBIR mechanism can generate genomic, genic and exonic complex rearrangements in humans.

Matthew-Wood syndrome is caused by truncating mutations in the retinol-binding protein receptor gene STRA6

P2888

1750-1172-7-2

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scholarly article

review article

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10.1186/1750-1172-7-2

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P478

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P577

2012-01-04T00:00:00Z

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51979777

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1035148966

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22216833

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P921

developmental disability

genetic variation

Achyolli

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3275445

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