Copy number variations on chromosome 4q26-27 are associated with Cantu syndrome

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Cantú syndrome is caused by mutations in ABCC9.Performance comparison of Affymetrix SNP6.0 and cytogenetic 2.7M whole-genome microarrays in complex cancer samples.A patient with Cantú syndrome associated with fatal bronchopulmonary dysplasia and pulmonary hypertension.

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P2860

Copy number variations on chromosome 4q26-27 are associated with Cantu syndrome

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http://www.wikidata.org/entity/Q36966119

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2011 nî lūn-bûn

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2011年の論文

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2011年論文

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2011年論文

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2011年論文

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2011年論文

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2011年論文

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2011年论文

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2011年论文

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Copy number variations on chromosome 4q26-27 are associated with Cantu syndrome

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Copy number variations on chromosome 4q26-27 are associated with Cantu syndrome

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prefLabel

Copy number variations on chromosome 4q26-27 are associated with Cantu syndrome

@en

P1476

Copy number variations on chromosome 4q26-27 are associated with Cantu syndrome

@en

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Angela M Christiano

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Brynn Levy

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Katherine Fantauzzo

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

Maija Kiuru

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Mazen Kurban

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Ossama Abbas

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P2860

Calsarcin-3, a novel skeletal muscle-specific member of the calsarcin family, interacts with multiple Z-disc proteins

Copy-number mutations on chromosome 17q24.2-q24.3 in congenital generalized hypertrichosis terminalis with or without gingival hyperplasia

An autosomal dominant syndrome of acromegaloid facial appearance and generalised hypertrichosis terminalis.

Long-range control of gene expression: emerging mechanisms and disruption in disease.

Autosomal dominant inheritance in Cantú syndrome (congenital hypertrichosis, osteochondrodysplasia, and cardiomegaly).

A new form of hypertrichosis inherited as an X-linked dominant trait.

Mice lacking calsarcin-1 are sensitized to calcineurin signaling and show accelerated cardiomyopathy in response to pathological biomechanical stress.

Copy number variations in schizophrenia: critical review and new perspectives on concepts of genetics and disease.

A position effect on TRPS1 is associated with Ambras syndrome in humans and the Koala phenotype in mice.

Cohesin and human disease.

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316-320

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scholarly article

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10.1159/000333800

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223

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Rita M. Cabral

Chong Ae Kim

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2011-01-01T00:00:00Z

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221811356

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22310962

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P932

3696378

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Copy number variations on chromosome 4q26-27 are associated with Cantu syndrome

about

P2860

P2860

Copy number variations on chromosome 4q26-27 are associated with Cantu syndrome

description

name

type

label

prefLabel

P1433

P1476

P2093

P2860

P304

P31

P356

P433

P478

P50

P577

P5875

P698

P932

P356

P1433

P1476

P2093

P2860

P304

P31

P356

P433

P478

P50

P577

P5875

P698

P932