Ectrodactyly and Lethal Pulmonary Acinar Dysplasia Associated with HomozygousFGFR2Mutations Identified by Exome Sequencing-Reference-Cited by-同舟云学术

Ectrodactyly and Lethal Pulmonary Acinar Dysplasia Associated with HomozygousFGFR2Mutations Identified by Exome Sequencing

Published:2016-07-11 Issue:9 Volume:37 Page:955-963
ISSN:1059-7794
Container-title:Human Mutation
language:en
Short-container-title:Human Mutation

Author:

Barnett Christopher P.¹²,Nataren Nathalie J.²³⁴,Klingler-Hoffmann Manuela²³⁴,Schwarz Quenten⁴,Chong Chan-Eng³,Lee Young K.³,Bruno Damien L.⁵,Lipsett Jill⁶,McPhee Andrew J.⁷⁸,Schreiber Andreas W.²⁴⁹,Feng Jinghua²⁴⁹,Hahn Christopher N.³⁴⁷,Scott Hamish S.²³⁴⁷⁹

Affiliation:

1. SA Clinical Genetics; Women's and Children's Hospital/SA Pathology; North Adelaide SA Australia

2. School of Biological Sciences; University of Adelaide; SA Australia

3. Department of Genetics and Molecular Pathology; Centre for Cancer Biology; SA Pathology Adelaide SA Australia

4. Centre for Cancer Biology; An Alliance between SA Pathology and the University of South Australia; SA Australia

5. Cytogenetics Laboratory; Murdoch Children's Research Institute, Royal Children's Hospital; Parkville Australia

6. Department of Neonatal Medicine; Women's and Children's Hospital; North Adelaide SA Australia

7. School of Medicine; University of Adelaide; SA Australia

8. Department of Anatomical Pathology; Women's and Children's Hospital/SA Pathology; North Adelaide SA Australia

9. ACRF Cancer Genomics Facility; Centre for Cancer Biology; SA Pathology SA Australia

Funder

National Health and Medical Research Council

Publisher

Wiley

Subject

Genetics (clinical),Genetics

Reference43 articles.

1. Fgfr2 is required for limb outgrowth and lung-branching morphogenesis;Arman;Proc Natl Acad Sci USA,1999

2. Apert and Crouzon syndromes: clinical findings, genes and extracellular matrix;Carinci;J Craniofac Surg,2005

3. Acinar dysplasia of the lungs: variation in the extent of involvement and clinical features;Chow;Pathology,2013

4. Distribution and intensity of constraint in mammalian genomic sequence;Cooper;Genome Res,2005

5. Levels of mesenchymal FGFR2 signaling modulate smooth muscle progenitor cell commitment in the lung;Langhe;Dev Biol,2006

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