De novo 2q36.1q36.3 interstitial deletion involving thePAX3andEPHA4genes in a fetus with spina bifida and cleft palate-Reference-Cited by-同舟云学术

De novo 2q36.1q36.3 interstitial deletion involving thePAX3andEPHA4genes in a fetus with spina bifida and cleft palate

Published:2014-04-18 Issue:6 Volume:100 Page:507-511
ISSN:1542-0752
Container-title:Birth Defects Research Part A: Clinical and Molecular Teratology
language:en
Short-container-title:Birth Defects Research Part A: Clinical and Molecular Teratology

Author:

Goumy Carole¹,Gay-Bellile Mathilde¹,Eymard-Pierre Eléonore¹,Kemeny Stephan¹,Gouas Laetitia¹,Déchelotte Pierre²,Gallot Denis³,Véronèse Lauren¹,Tchirkov Andrei¹,Pebrel-Richard Céline¹,Vago Philippe¹

Affiliation:

1. Cytogénétique Médicale; Université Clermont1, UFR Médecine, CHU Clermont-Ferrand, CHU Estaing; France

2. Anatomie et Cytologie Pathologiques; CHU Clermont-Ferrand, CHU Estaing; France

3. Unité de Médecine Fœtale; CHU Clermont-Ferrand, CHU Estaing; France

Publisher

Wiley

Subject

Developmental Biology,Embryology,General Medicine,Pediatrics, Perinatology, and Child Health

Link

http://onlinelibrary.wiley.com/wol1/doi/10.1002/bdra.23246/fullpdf

Reference21 articles.

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3. Waardenburg syndrome associated with meningomyelocele;Carezani-Gavin;Am J Med Genet,1992

4. Chromosome 2q terminal deletion: report of 6 new patients and review of phenotype-breakpoint correlations in 66 individuals;Casas;Am J Med Genet A,2004

5. Waardenburg syndrome and myelomeningocele in a family;Chatkupt;J Med Genet,1993

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