Atrioventricular canal defect and postaxial polydactyly indicating phenotypic overlap of Ellis-van Creveld and Kaufman-McKusick syndromes.

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作者信息

Digilio M C, Marino B, Giannotti A, Dallapiccola B

出版信息

Pediatr Cardiol. 1997 Jan-Feb;18(1):74-5. doi: 10.1007/s002469900116.

DOI:10.1007/s002469900116

PMID:8960501

Abstract

摘要

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Atrioventricular canal defect and postaxial polydactyly indicating phenotypic overlap of Ellis-van Creveld and Kaufman-McKusick syndromes.

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本文引用的文献

HYDROMETROCOLPOS AS A SIMPLY INHERITED MALFORMATION.

JAMA. 1964 Sep 14;189:813-6. doi: 10.1001/jama.1964.03070110015003.

[Ellis-Van-Creveld disease].

Alger Medicale. 1956 Oct;60(10):769-72; passim.

Atrioventricular septal defect and type A postaxial polydactyly without other major associated anomalies: a specific association.

Pediatr Cardiol. 1995 Sep-Oct;16(5):242-6. doi: 10.1007/BF00795716.

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Hum Genet. 1994 Jul;94(1):104-6. doi: 10.1007/BF02272854.

Single atrium, atrioventricular canal/postaxial hexodactyly indicating Ellis-van Creveld syndrome.单心房、房室管/轴后多指（趾）畸形提示埃利斯-范克里弗德综合征。

Hum Genet. 1995 Aug;96(2):251-3. doi: 10.1007/BF00207395.

Partial endocardial cushion defect and persistence of the left superior vena cava draining into the left atrium in a 34-year-old man with features of the Kaufman and Marfan syndromes.

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The William Allan Memorial Award Lecture: Genetic nosology: three approaches.威廉·艾伦纪念奖讲座：基因疾病分类学：三种方法

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