Cutis laxa and excessive bone growth due to de novo mutations in PTDSS1-Reference-Cited by-同舟云学术

Cutis laxa and excessive bone growth due to de novo mutations in PTDSS1

Published:2018-01-17 Issue:3 Volume:176 Page:668-675
ISSN:1552-4825
Container-title:American Journal of Medical Genetics Part A
language:en
Short-container-title:Am J Med Genet

Author:

Piard Juliette¹^ORCID,Lespinasse James²,Vlckova Marketa³,Mensah Martin A.⁴,Iurian Sorin⁵,Simandlova Martina³,Malikova Marcela³,Bartsch Oliver⁶,Rossi Massimiliano⁷^ORCID,Lenoir Marion⁸,Nugues Frédérique⁹,Mundlos Stefan⁴,Kornak Uwe⁴,Stanier Philip¹⁰,Sousa Sérgio B.¹¹,Van Maldergem Lionel¹

Affiliation:

1. Centre de Génétique Humaine; Université de Franche-Comté; Besançon France

2. Service de Cytogénétique; Centre Hospitalier de Chambéry-Hôtel Dieu; Chambéry France

3. Department of Biology and Medical Genetics; Motol Hospital; Charles University; Prague Czech Republic

4. Institut für Medizinische Genetik und Humangenetik; Charité − Universitätsmedizin Berlin; corporate member of Freie Universität Berlin; Humboldt-Universität zu Berlin, and Berlin Institute of Health; Berlin Germany

5. Faculty of Medicine; Lucian Blaga University Sibiu; Sibiu Romania

6. Institute of Human Genetics; Medical Center of the Johannes Gutenberg University Mainz; Mainz Germany

7. Service de Génétique, Hospices Civils de Lyon; Centre de Recherche en Neurosciences de Lyon; Bron France

8. Service de Radiologie Pédiatrique et Imagerie de la Femme; Centre Hospitalier Régional Universitaire de Besançon; Besançon France

9. Service d'Imagerie Pédiatrique; Centre Hospitalier Universitaire Grenoble Alpes; Grenoble France

10. Genetics and Genomic Medicine; UCL GOS Institute of Child Health; London UK

11. Serviço de Genética Medica; Hospital Pediatrico; Centro Hospitalar e Universitário de Coimbra; Coimbra Portugal

Funder

Academy of Medical Royal Colleges

The National Institute for Health Research Biomedical Research Centre

Publisher

Wiley

Subject

Genetics(clinical),Genetics

Reference17 articles.

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4. A generalized disorder of the connective tissues with progeria, choanal atresia, symphalangism, hypoplasia of dentine and craniodiaphyseal hypostosis;Lenz;Birth Defects Original Article Series,1974

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