Cornelia de Lange syndrome due to mosaic NIPBL mutation: antenatal presentation with sacrococcygeal teratoma.

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Cornelia de Lange syndrome due to mosaic NIPBL mutation: antenatal presentation with sacrococcygeal teratoma.

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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

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2015年論文

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2015年论文

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2015年论文

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2015年论文

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name

Cornelia de Lange syndrome due ...... with sacrococcygeal teratoma.

@en

Cornelia de Lange syndrome due ...... with sacrococcygeal teratoma.

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label

Cornelia de Lange syndrome due ...... with sacrococcygeal teratoma.

@en

Cornelia de Lange syndrome due ...... with sacrococcygeal teratoma.

@nl

prefLabel

Cornelia de Lange syndrome due ...... with sacrococcygeal teratoma.

@en

Cornelia de Lange syndrome due ...... with sacrococcygeal teratoma.

@nl

P1476

Cornelia de Lange syndrome due ...... with sacrococcygeal teratoma.

@en

P2093

Alan Fenton

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Miranda Splitt

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Nishant Banait

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P2860

Cornelia de Lange syndrome is caused by mutations in NIPBL, the human homolog of Drosophila melanogaster Nipped-B

de Lange syndrome: a clinical review of 310 individuals

Causes of death and autopsy findings in a large study cohort of individuals with Cornelia de Lange syndrome and review of the literature

De Lange syndrome: subjective and objective comparison of the classical and mild phenotypes

Clinical utility gene card for: Cornelia de Lange syndrome

Partial trisomy 3q in a child with sacrococcygeal teratoma and Cornelia de Lange syndrome phenotype.

Sacrococcygeal teratoma: prenatal assessment, fetal intervention, and outcome.

Brachmann-Cornelia de Lange syndrome with a papilloma of the choroid plexus: analyses of molecular genetic characteristics of the patient and the tumor. A single-case study.

High rate of mosaicism in individuals with Cornelia de Lange syndrome.

P31

scholarly article

case report

P356

10.1136/BCR-2015-211006

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P478

2015

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P577

2015-08-14T00:00:00Z

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P5875

280952853

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26276849

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P932

4550881

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