Delineation of 2q32q35 deletion phenotypes: two apparent "proximal" and "distal" syndromes.

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Specific behavioural phenotype and secondary cognitive decline as a result of an 8.6 Mb deletion of 2q32.2q33.1.SATB2-associated syndrome: Mechanisms, phenotype, and practical recommendations.

P2860

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Delineation of 2q32q35 deletion phenotypes: two apparent "proximal" and "distal" syndromes.

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http://www.wikidata.org/entity/Q43117854

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2013 nî lūn-bûn

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2013年の論文

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2013年学术文章

@wuu

2013年学术文章

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2013年学术文章

@zh-cn

2013年学术文章

@zh-hans

2013年学术文章

@zh-my

2013年学术文章

@zh-sg

2013年學術文章

@yue

2013年學術文章

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name

Delineation of 2q32q35 deletio ...... ximal" and "distal" syndromes.

@en

Delineation of 2q32q35 deletio ...... ximal" and "distal" syndromes.

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type

Item

label

Delineation of 2q32q35 deletio ...... ximal" and "distal" syndromes.

@en

Delineation of 2q32q35 deletio ...... ximal" and "distal" syndromes.

@nl

prefLabel

Delineation of 2q32q35 deletio ...... ximal" and "distal" syndromes.

@en

Delineation of 2q32q35 deletio ...... ximal" and "distal" syndromes.

@nl

P1476

Delineation of 2q32q35 deletio ...... oximal" and "distal" syndromes

@en

P2093

Alice M George

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Juliet Taylor

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

Nerine Gregersen

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P2860

Small deletions of SATB2 cause some of the clinical features of the 2q33.1 microdeletion syndrome

Myostatin mutation associated with gross muscle hypertrophy in a child

Primary structure and tissue distribution of FRZB, a novel protein related to Drosophila frizzled, suggest a role in skeletal morphogenesis

Regulation of skeletal muscle mass in mice by a new TGF-beta superfamily member

Satb2 haploinsufficiency phenocopies 2q32-q33 deletions, whereas loss suggests a fundamental role in the coordination of jaw development

SUMO1 haploinsufficiency leads to cleft lip and palate

Dense nuclear cataract caused by the gammaB-crystallin S11R point mutation

Clinical and genetic features of Ehlers-Danlos syndrome type IV, the vascular type.

Haploinsufficiency for one COL3A1 allele of type III procollagen results in a phenotype similar to the vascular form of Ehlers-Danlos syndrome, Ehlers-Danlos syndrome type IV.

Identification of SATB2 as the cleft palate gene on 2q32-q33.

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823451

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scholarly article

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10.1155/2013/823451

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2013

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Donald R. Love

Adrian Mc Cormack

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2013-06-09T00:00:00Z

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248385976

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23840981

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3690635

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Delineation of 2q32q35 deletion phenotypes: two apparent "proximal" and "distal" syndromes.

about

P2860

P2860

Delineation of 2q32q35 deletion phenotypes: two apparent "proximal" and "distal" syndromes.

description

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P1433

P1476

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