A germlineMTORmutation in Aboriginal Australian siblings with intellectual disability, dysmorphism, macrocephaly, and small thoraces-Reference-Cited by-同舟云学术

A germlineMTORmutation in Aboriginal Australian siblings with intellectual disability, dysmorphism, macrocephaly, and small thoraces

Published:2015-04-06 Issue:7 Volume:167 Page:1659-1667
ISSN:1552-4825
Container-title:American Journal of Medical Genetics Part A
language:en
Short-container-title:Am. J. Med. Genet.

Author:

Baynam Gareth¹²³⁴⁵,Overkov Angela¹,Davis Mark⁶⁷,Mina Kym⁶⁷,Schofield Lyn¹⁴,Allcock Richard⁶⁷,Laing Nigel⁸,Cook Matthew⁹¹⁰,Dawkins Hugh²⁶¹¹¹²,Goldblatt Jack¹²³

Affiliation:

1. Genetic Services of Western Australia; Princess Margaret and King Edward Memorial Hospitals; Perth Western Australia Australia

2. School of Paediatrics and Child Health; University of Western Australia; Perth Western Australia Australia

3. Office of Population Health Genomics; Department of Health; Public Health and Clinical Services Division; Government of Western Australia; Perth Western Australia Australia

4. Institute for Immunology and Infectious Diseases; Murdoch University; Perth Western Australia Australia

5. Telethon Kids Institute; Perth Western Australia Australia

6. School of Pathology and Laboratory Medicine; University of Western Australia; Perth Western Australia Australia

7. Diagnostic Genomics; PathWest Laboratory Medicine; QEII Medical Centre; Perth Western Australia Australia

8. Harry Perkins Institute of Medical Research; Perth Western Australia Australia

9. Department of Immunology; John Curtin School of Medical Research; Australian National University; Canberra Australian Capital Territory Australia

10. Australia and Translational Research Unit; Canberra Hospital; Canberra Australian Capital Territory Australia

11. Centre for Comparative Genomics; Murdoch University; Perth Western Australia Australia

12. Centre for Population Health Research; Curtin Health Innovation Research Institute; Curtin University of Technology; Perth Western Australia Australia

Publisher

Wiley

Subject

Genetics (clinical),Genetics

Link

http://onlinelibrary.wiley.com/wol1/doi/10.1002/ajmg.a.37070/fullpdf

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2. Objective monitoring of mTOR inhibitor therapy by three-dimensional facial analysis;Baynam;Twin Res Human Genet,2013b

3. A novel x-linked recessive mental retardation syndrome comprising macrocephaly and ciliary dysfunction is allelic to oral-facial-digital type 1 syndrome;Budny;Human Genet,2006

4. Parental somatic mosaicism is underrecognized and influences recurrence risk of genomic disorders;Campbell;Am J Hum Genet,2014

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