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[Molecular diagnosis of CHARGE syndrom].
Ugeskr Laeger. 2007 Jan 29; 169(5):402-6.UL

Abstract

CHARGE (coloboma, heart defects, atresia choanae, retarded growth and development, genital anomalies, ear anomalies) is a genetically heterogeneous syndrome in which CHD7 (chromodomain helicase DNA-binding protein 7) mutations account for about 60% of the cases. There is no obvious genotype-phenotype correlation but the majority of the patients fulfils the diagnostic criteria previously proposed. CHARGE syndrome should be considered in children with facial asymmetry, colobomas or choanal atresia; ear abnormalities are of great diagnostic value.

Authors+Show Affiliations

Rigshospitalet, Juliane Marie Centret, Klinisk Genetisk Afdeling. anne-marie.bisgaard.pedersen@rh.hosp.dkNo affiliation info available

Pub Type(s)

English Abstract
Journal Article
Review

Language

dan

PubMed ID

17280632

Citation

Pedersen, Anne-Marie Bisgaard, and Flemming Skovby. "[Molecular Diagnosis of CHARGE Syndrom]." Ugeskrift for Laeger, vol. 169, no. 5, 2007, pp. 402-6.
Pedersen AM, Skovby F. [Molecular diagnosis of CHARGE syndrom]. Ugeskr Laeger. 2007;169(5):402-6.
Pedersen, A. M., & Skovby, F. (2007). [Molecular diagnosis of CHARGE syndrom]. Ugeskrift for Laeger, 169(5), 402-6.
Pedersen AM, Skovby F. [Molecular Diagnosis of CHARGE Syndrom]. Ugeskr Laeger. 2007 Jan 29;169(5):402-6. PubMed PMID: 17280632.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - [Molecular diagnosis of CHARGE syndrom]. AU - Pedersen,Anne-Marie Bisgaard, AU - Skovby,Flemming, PY - 2007/2/7/pubmed PY - 2007/2/9/medline PY - 2007/2/7/entrez SP - 402 EP - 6 JF - Ugeskrift for laeger JO - Ugeskr Laeger VL - 169 IS - 5 N2 - CHARGE (coloboma, heart defects, atresia choanae, retarded growth and development, genital anomalies, ear anomalies) is a genetically heterogeneous syndrome in which CHD7 (chromodomain helicase DNA-binding protein 7) mutations account for about 60% of the cases. There is no obvious genotype-phenotype correlation but the majority of the patients fulfils the diagnostic criteria previously proposed. CHARGE syndrome should be considered in children with facial asymmetry, colobomas or choanal atresia; ear abnormalities are of great diagnostic value. SN - 1603-6824 UR - https://www.unboundmedicine.com/medline/citation/17280632/[Molecular_diagnosis_of_CHARGE_syndrom]_ L2 - https://medlineplus.gov/congenitalheartdefects.html DB - PRIME DP - Unbound Medicine ER -