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Literature DB >> 10748421

Kabuki syndrome and diaphragmatic defects: a frequent association in non-Asian patients?

A Donadio, L Garavelli, G Banchini, G Neri.

Abstract

Entities: Disease Species

Mesh：

Year: 2000 PMID： 10748421

Source DB: PubMed Journal: Am J Med Genet ISSN： 0148-7299

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6 in total

1. Kabuki make-up syndrome.

Authors: M L Kulkarni; Sudarshan K Shetty; V K Chandrasekar; Preethi M Kulkarni
Journal: Indian J Pediatr Date: 2004-09 Impact factor: 1.967

2. The C20orf133 gene is disrupted in a patient with Kabuki syndrome.

Authors: Nicole M C Maas; Tom Van de Putte; Cindy Melotte; Annick Francis; Constance T R M Schrander-Stumpel; Damien Sanlaville; David Genevieve; Stanislas Lyonnet; Boyan Dimitrov; Koenraad Devriendt; Jean-Pierre Fryns; Joris R Vermeesch
Journal: BMJ Case Rep Date: 2009-06-30

3. Infrequent Manifestations of Kabuki Syndrome in a Patient with Novel MLL2 Mutation.

Authors: Y A Zarate; H Zhan; J R Jones
Journal: Mol Syndromol Date: 2012-08-30

4. The C20orf133 gene is disrupted in a patient with Kabuki syndrome.

5. Cardiac conduction abnormalities and congenital immunodeficiency in a child with Kabuki syndrome: case report.

Authors: Maulik Shah; Brian Bogucki; Melissa Mavers; Daphne E deMello; Alan Knutsen
Journal: BMC Med Genet Date: 2005-07-25 Impact factor: 2.103

6. Interstitial deletion of chromosome 1 (1p21.1p12) in an infant with congenital diaphragmatic hernia, hydrops fetalis, and interrupted aortic arch.

Authors: Masitah Ibrahim; Matthew Hunter; Lucy Gugasyan; Yuen Chan; Atul Malhotra; Arvind Sehgal; Kenneth Tan
Journal: Clin Case Rep Date: 2017-01-23

6 in total