Analysis ofMLL2gene in the first Brazilian family with Kabuki syndrome-Reference-Cited by-同舟云学术

Analysis ofMLL2gene in the first Brazilian family with Kabuki syndrome

Published:2012-06-27 Issue:8 Volume:158A Page:2003-2008
ISSN:1552-4825
Container-title:American Journal of Medical Genetics Part A
language:en
Short-container-title:Am. J. Med. Genet.

Author:

Kokitsu-Nakata Nancy Mizue,Petrin Aline Lourenço,Heard Jason Paul,Vendramini-Pittoli Siulan,Henkle Laura E,dos Santos Daniela Vera Cruz,Murray Jeffrey Clark,Richieri-Costa Antonio

Publisher

Wiley

Subject

Genetics (clinical),Genetics

Link

http://onlinelibrary.wiley.com/wol1/doi/10.1002/ajmg.a.35454/fullpdf

Reference37 articles.

1. Anorectal anomalies, diaphragmatic defect, cleft palate, lower lip pits, hypopigmentation and hypogammaglobulinemia A in Kabuki syndrome: A rare combination;Abdel-Salam;Genet Couns,2008

2. Kabuki syndrome: Underdiagnosed recognizable pattern in cleft palate patients;Burke;Cleft Palate Craniofac J,1995

3. Further evidence for autosomal dominant inheritance and ectodermal abnormalities in Kabuki syndrome;Courtens;Am J Med Genet,2000

4. Lower lip pits and complete idiopathic precocious puberty in a patient with Kabuki make-up (Niikawa-Kuroki) syndrome;Franceschini;Am J Med Genet,1993

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