Asphyxiating thoracic dysplasia: clinical and molecular review of 39 families

Geneviève Baujat; Céline Huber; Joyce El Hokayem; Roseline Caumes; Claire Do Ngoc Thanh; Albert David; Anne-Lise Delezoide; Anne Dieux-Coeslier; Brigitte Estournet; Christine Francannet; Honorine Kayirangwa; Florence Lacaille; Muriel Le Bourgeois; Jelena Martinovic; Rémi Salomon; Sabine Sigaudy; Valérie Malan; Arnold Munnich; Martine Le Merrer; Kim Hanh Le Quan Sang; Valérie Cormier-Daire

doi:10.1136/jmedgenet-2012-101282

Article info

Genotype-phenotype correlations

Original article

Asphyxiating thoracic dysplasia: clinical and molecular review of 39 families

Authors

Geneviève Baujat Département de Génétique et INSERM U781, Université Paris Descartes-Sorbonne Paris Cité, Fondation Imagine, Hôpital Necker-Enfants malades, AP-HP, Paris, France PubMed articles Google scholar articles
Céline Huber Département de Génétique et INSERM U781, Université Paris Descartes-Sorbonne Paris Cité, Fondation Imagine, Hôpital Necker-Enfants malades, AP-HP, Paris, France PubMed articles Google scholar articles
Joyce El Hokayem Département de Génétique et INSERM U781, Université Paris Descartes-Sorbonne Paris Cité, Fondation Imagine, Hôpital Necker-Enfants malades, AP-HP, Paris, France PubMed articles Google scholar articles
Roseline Caumes Département de Génétique et INSERM U781, Université Paris Descartes-Sorbonne Paris Cité, Fondation Imagine, Hôpital Necker-Enfants malades, AP-HP, Paris, France PubMed articles Google scholar articles
Claire Do Ngoc Thanh Médecine Physique et Réadaptation de l'Enfant, Hôpital Raymond Poincaré, Garches, France PubMed articles Google scholar articles
Albert David Service de Génétique Médicale, CHU de Nantes, Nantes, France PubMed articles Google scholar articles
Anne-Lise Delezoide Service de Biologie du Développement, Université Paris Diderot-Sorbonne Paris Cité, Hôpital Robert Debré, AP-HP, Paris, France PubMed articles Google scholar articles
Anne Dieux-Coeslier Clinique de Génétique Guy Fontaine, CHRU, Hôpital Jeanne de Flandre, Lille, France PubMed articles Google scholar articles
Brigitte Estournet Médecine Physique et Réadaptation de l'Enfant, Hôpital Raymond Poincaré, Garches, France PubMed articles Google scholar articles
Christine Francannet Service de Génétique Médicale, CHU Estaing, Clermont Ferrand, France PubMed articles Google scholar articles
Honorine Kayirangwa Département de Génétique et INSERM U781, Université Paris Descartes-Sorbonne Paris Cité, Fondation Imagine, Hôpital Necker-Enfants malades, AP-HP, Paris, France PubMed articles Google scholar articles
Florence Lacaille Service d'Hépatologie-Gastroenterologie-Nutrition, Université Paris Descartes, Hôpital Necker-Enfants malades, AP-HP, Paris, France PubMed articles Google scholar articles
Muriel Le Bourgeois Département of de Pneumologie et Allergologie, Université Paris Descartes, Hôpital Necker-Enfants malades, AP-HP, Paris, France PubMed articles Google scholar articles
Jelena Martinovic Unité de Foetopathologie, Université Paris Sud, Hôpital Antoine Béclère, APHP, Paris, France PubMed articles Google scholar articles
Rémi Salomon Service de Néphrologie Pédiatrique et U574, Université Paris Descartes, Hôpital Necker-Enfants malades, AP-HP, Paris, France PubMed articles Google scholar articles
Sabine Sigaudy Département de Génétique Médicale, Hôpital d'Enfant de la Timone, Marseille, France PubMed articles Google scholar articles
Valérie Malan Département de Génétique et INSERM U781, Université Paris Descartes-Sorbonne Paris Cité, Fondation Imagine, Hôpital Necker-Enfants malades, AP-HP, Paris, France PubMed articles Google scholar articles
Arnold Munnich Département de Génétique et INSERM U781, Université Paris Descartes-Sorbonne Paris Cité, Fondation Imagine, Hôpital Necker-Enfants malades, AP-HP, Paris, France PubMed articles Google scholar articles
Martine Le Merrer Département de Génétique et INSERM U781, Université Paris Descartes-Sorbonne Paris Cité, Fondation Imagine, Hôpital Necker-Enfants malades, AP-HP, Paris, France PubMed articles Google scholar articles
Kim Hanh Le Quan Sang Département de Génétique et INSERM U781, Université Paris Descartes-Sorbonne Paris Cité, Fondation Imagine, Hôpital Necker-Enfants malades, AP-HP, Paris, France PubMed articles Google scholar articles
Valérie Cormier-Daire Département de Génétique et INSERM U781, Université Paris Descartes-Sorbonne Paris Cité, Fondation Imagine, Hôpital Necker-Enfants malades, AP-HP, Paris, France PubMed articles Google scholar articles

Correspondence to Professor Valérie Cormier-Daire, Department of Genetics, Paris Descartes-Sorbonne Paris Cité, Fondation Imagine, Hopital Necker-Enfants malades, AP-HP, U781, Paris 75015, France; valerie.cormier-daire{at}inserm.fr

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Citation

Baujat G, Huber C, El Hokayem J, et al

Asphyxiating thoracic dysplasia: clinical and molecular review of 39 families

Journal of Medical Genetics 2013;50:91-98.

Publication history

Received September 5, 2012
Revised November 2, 2012
Accepted November 9, 2012
First published January 20, 2013.

Online issue publication

April 27, 2016

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