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PMID:19242925

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Citation

Chong, K, Keating, S, Hurst, S, Summers, A, Berger, H, Seaward, G, Martin, N, Friedberg, T and Chitayat, D (2009) Cornelia de Lange syndrome (CdLS): prenatal and autopsy findings. Prenat. Diagn. 29:489-94

Abstract

Cornelia de Lange Syndrome (CdLS) is a multisystem disorder characterized by somatic defects and mental retardation. Prenatal diagnosis of this severe condition is difficult in view of the non-specific ultrasound abnormalities. We report three cases with prenatally suspected CdLS based on the ultrasound findings as well as low PAPP-A detected on first trimester screening in one case, and the results of the autopsy and the NIPBL gene mutation analysis.

Links

PubMed Online version:10.1002/pd.2228

Keywords

Adult; Autopsy; De Lange Syndrome/diagnosis; De Lange Syndrome/pathology; Female; Humans; Male; Mutation; Pregnancy; Pregnancy-Associated Plasma Protein-A/analysis; Pregnancy-Associated Plasma Protein-A/genetics; Proteins/analysis; Proteins/genetics; Ultrasonography, Prenatal; Young Adult

Significance

Annotations

Gene product Qualifier GO Term Evidence Code with/from Aspect Extension Notes Status

HUMAN:NIPBL

involved_in

GO:0035115: embryonic forelimb morphogenesis

ECO:0000315: mutant phenotype evidence used in manual assertion

P

Seeded From UniProt

complete

HUMAN:NIPBL

involved_in

GO:0003151: outflow tract morphogenesis

ECO:0000315: mutant phenotype evidence used in manual assertion

P

Seeded From UniProt

complete

HUMAN:NIPBL

involved_in

GO:0035261: external genitalia morphogenesis

ECO:0000315: mutant phenotype evidence used in manual assertion

P

Seeded From UniProt

complete

HUMAN:NIPBL

involved_in

GO:0045995: regulation of embryonic development

ECO:0000315: mutant phenotype evidence used in manual assertion

P

Seeded From UniProt

complete

HUMAN:NIPBL

involved_in

GO:0048557: embryonic digestive tract morphogenesis

ECO:0000315: mutant phenotype evidence used in manual assertion

P

Seeded From UniProt

complete

HUMAN:NIPBL

involved_in

GO:0048638: regulation of developmental growth

ECO:0000315: mutant phenotype evidence used in manual assertion

P

Seeded From UniProt

complete

HUMAN:NIPBL

involved_in

GO:0061038: uterus morphogenesis

ECO:0000315: mutant phenotype evidence used in manual assertion

P

Seeded From UniProt

complete

HUMAN:NIPBL

involved_in

GO:0060325: face morphogenesis

ECO:0000315: mutant phenotype evidence used in manual assertion

P

Seeded From UniProt

complete

HUMAN:NIPBL

involved_in

GO:0061010: gall bladder development

ECO:0000315: mutant phenotype evidence used in manual assertion

P

Seeded From UniProt

complete


See also

References

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