A 6q14.1-q15 microdeletion in a male patient with severe autistic disorder, lack of oral language, and dysmorphic features with concomitant presence of a maternally inherited Xp22.31 copy number gain.

A 6q14.1-q15 microdeletion in a male patient with severe autistic disorder, lack of oral language, and dysmorphic features with concomitant presence of a maternally inherited Xp22.31 copy number gain.

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Proximal Deletion of 6q Overlapping with Toriello-Carey Facial Phenotype: Prenatal Findings, Clinical Course, Differential Diagnosis, and Review.

P2860

Q49885143-FDC9DC11-3F00-4207-A55C-4A4D7A746F58

P2860

A 6q14.1-q15 microdeletion in a male patient with severe autistic disorder, lack of oral language, and dysmorphic features with concomitant presence of a maternally inherited Xp22.31 copy number gain.

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http://www.wikidata.org/entity/Q41135371

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2015 nî lūn-bûn

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2015年の論文

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2015年論文

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2015年論文

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2015年論文

@zh-hk

2015年論文

@zh-mo

2015年論文

@zh-tw

2015年论文

@wuu

2015年论文

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2015年论文

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name

A 6q14.1-q15 microdeletion in ...... ited Xp22.31 copy number gain.

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type

Item

label

A 6q14.1-q15 microdeletion in ...... ited Xp22.31 copy number gain.

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A 6q14.1-q15 microdeletion in ...... ited Xp22.31 copy number gain.

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P1476

A 6q14.1-q15 microdeletion in ...... ited Xp22.31 copy number gain.

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P2093

Francisco Barros

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Ines Quintela

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Jesus Eiris

http://www.w3.org/2001/XMLSchema#string

Lorena Gomez-Guerrero

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Montse Fernandez-Prieto

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P2860

The influence of serotonin- and other genes on impulsive behavioral aggression and cognitive impulsivity in children with attention-deficit/hyperactivity disorder (ADHD): Findings from a family-based association test (FBAT) analysis

Autosomal recessive phosphoglucomutase 3 (PGM3) mutations link glycosylation defects to atopy, immune deficiency, autoimmunity, and neurocognitive impairment

Microarray based comparative genomic hybridisation (array-CGH) detects submicroscopic chromosomal deletions and duplications in patients with learning disability/mental retardation and dysmorphic features

Range of genetic mutations associated with severe non-syndromic sporadic intellectual disability: an exome sequencing study

Ripply2 is essential for precise somite formation during mouse early development

Loss of function of the melanocortin 2 receptor accessory protein 2 is associated with mammalian obesity

Consensus statement: chromosomal microarray is a first-tier clinical diagnostic test for individuals with developmental disabilities or congenital anomalies

Genome-wide association scan of quantitative traits for attention deficit hyperactivity disorder identifies novel associations and confirms candidate gene associations

Genome-wide association of mood-incongruent psychotic bipolar disorder.

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

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415-423

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scholarly article

case report

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10.1002/CCR3.255

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English

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Angel Carracedo

Mariela Resches

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2015-04-09T00:00:00Z

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274731555

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26185640

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autism

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4498854

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A 6q14.1-q15 microdeletion in a male patient with severe autistic disorder, lack of oral language, and dysmorphic features with concomitant presence of a maternally inherited Xp22.31 copy number gain.

about

P2860

P2860

A 6q14.1-q15 microdeletion in a male patient with severe autistic disorder, lack of oral language, and dysmorphic features with concomitant presence of a maternally inherited Xp22.31 copy number gain.

description

name

type

label

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P1433

P1476

P2093

P2860

P304

P31

P356

P407

P433

P478

P50

P577

P5875

P698

P921

P932

P356

P1433

P1476

P2093

P2860

P304

P31

P356

P407

P433

P478

P50

P577

P5875

P698

P921

P932