A Boy with an LCR3/4-Flanked 10q22.3q23.2 Microdeletion and Uncommon Phenotypic Features.

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A New Case of the Rare 10q22.3q23.2 Microdeletion Flanked by Low-Copy Repeats 3/4.

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A Boy with an LCR3/4-Flanked 10q22.3q23.2 Microdeletion and Uncommon Phenotypic Features.

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http://www.wikidata.org/entity/Q41940947

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2013 nî lūn-bûn

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2013年の論文

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2013年論文

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2013年論文

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2013年論文

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name

A Boy with an LCR3/4-Flanked 10q22.3q23.2 Microdeletion and Uncommon Phenotypic Features.

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Item

label

A Boy with an LCR3/4-Flanked 10q22.3q23.2 Microdeletion and Uncommon Phenotypic Features.

@en

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A Boy with an LCR3/4-Flanked 10q22.3q23.2 Microdeletion and Uncommon Phenotypic Features.

@en

P1476

A Boy with an LCR3/4-Flanked 10q22.3q23.2 Microdeletion and Uncommon Phenotypic Features.

@en

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A Jurkutat

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C Neuner

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E Kunstmann

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E Petrova

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I Nanda

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J Wirbelauer

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K Wermke

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M Schmid

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T Haaf

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P2860

Bone morphogenetic proteins

Germline mutations in BMPR1A/ALK3 cause a subset of cases of juvenile polyposis syndrome and of Cowden and Bannayan-Riley-Ruvalcaba syndromes.

Contiguous gene deletion within chromosome arm 10q is associated with juvenile polyposis of infancy, reflecting cooperation between the BMPR1A and PTEN tumor-suppressor genes.

The phenotype of recurrent 10q22q23 deletions and duplications.

Juvenile polyposis and other intestinal polyposis syndromes with microdeletions of chromosome 10q22-23

Parental insertional balanced translocations are an important cause of apparently de novo CNVs in patients with developmental anomalies.

Recurrent 10q22-q23 deletions: a genomic disorder on 10q associated with cognitive and behavioral abnormalities

Reduced bone morphogenetic protein receptor type 1A signaling in neural-crest-derived cells causes facial dysmorphism.

Treatment modalities of infants with upper airway obstruction--review of the literature and presentation of novel orthopedic appliances.

Oligoarray (105K) CGH analysis of chromosome microdeletions within 10q22.1q24.32.

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19-24

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scholarly article

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10.1159/000355847

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P478

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2013-11-02T00:00:00Z

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24550761

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3919489

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A Boy with an LCR3/4-Flanked 10q22.3q23.2 Microdeletion and Uncommon Phenotypic Features.

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P2860

P2860

A Boy with an LCR3/4-Flanked 10q22.3q23.2 Microdeletion and Uncommon Phenotypic Features.

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type

label

prefLabel

P1433

P1476

P2093

P2860

P304

P31

P356

P433

P478

P577

P698

P932

P356

P1433

P1476

P2093

P2860

P304

P31

P356

P433

P478

P577

P698

P932