Congenital diaphragmatic hernia may be associated with 17q12 microdeletion syndrome-Reference-Cited by-同舟云学术

Congenital diaphragmatic hernia may be associated with 17q12 microdeletion syndrome

Published:2014-11-25 Issue:1 Volume:167 Page:250-253
ISSN:1552-4825
Container-title:American Journal of Medical Genetics Part A
language:en
Short-container-title:Am. J. Med. Genet.

Author:

Goumy Carole¹²,Laffargue Fanny³,Eymard-Pierre Eléonore¹²,Kemeny Stéphen¹²,Gay-Bellile Mathilde¹²,Gouas Laetiti¹²,Gallot Denis²⁴,Francannet Christine³,Tchirkov Andrei¹²,Pebrel-Richard Céline¹²,Vago Philippe¹²

Affiliation:

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

2. EA 4677; ERTICa; Université d'Auvergne; Clermont-Ferrand France

3. Génétique Médicale; CHU Clermont-Ferrand; CHU Estaing France

4. Unité de Médecine F; œ; tale; CHU Clermont-Ferrand; CHU Estaing France

Publisher

Wiley

Subject

Genetics(clinical),Genetics

Link

http://onlinelibrary.wiley.com/wol1/doi/10.1002/ajmg.a.36840/fullpdf

Reference17 articles.

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2. Exome sequencing identifies a recessive PIGN splice site mutation as a cause of syndromic Congenital Diaphragmatic Hernia;Brady;Eur J Med Genet,2014

3. Glycosylphosphatidylinositol (GPI) anchor deficiency caused by mutations in PIGW is associated with West syndrome and hyperphosphatasia with mental retardation syndrome;Chiyonobu;J Med Genet.,2014

4. Understanding human glycosylation disorders: Biochemistry leads the charge;Freeze;J Biol Chem.,2013

5. Recurrent Transmission of a 17q12 Microdeletion and a Variable Clinical Spectrum;George;Mol Syndromol,2012

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3. Genetics of Diaphragmatic Hernia;Encyclopedia of Life Sciences;2023-06-08

4. Molecular Mechanisms Contributing to the Etiology of Congenital Diaphragmatic Hernia: A Review and Novel Cases;The Journal of Pediatrics;2022-07

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