Journal article

A novel X-linked trichothiodystrophy associated with a nonsense mutation in RNF113A

Mark A Corbett, Tracy Dudding-Byth, Patricia A Crock, Elena Botta, Louise M Christie, Tiziana Nardo, Giuseppina Caligiuri, Lynne Hobson, Jackie Boyle, Albert Mansour, Kathryn L Friend, Jo Crawford, Graeme Jackson, Lucianne Vandeleur, Anna Hackett, Patrick Tarpey, Michael R Stratton, Gillian Turner, Jozef Gecz, Michael Field

Journal of Medical Genetics | BMJ PUBLISHING GROUP | Published : 2015


Awarded by NHMRC

Funding Acknowledgements

We are grateful for the cooperation of the family involved in this study. We wish to thank Donna Williams, for endocrine nursing expertise in hormonal stimulation testing; Elizabeth Nunn, Paediatric Endocrine Nurse Consultant for her excellent patient care; Dr Rani Bhatia, Paediatric Immunologist; Dr Hughie Tsang, Paediatric Ophthalmologist; The South Australian Cancer Council Genomics Facility for assistance with exome sequencing; anti-TFIIE alpha, cdk7, p62, XPD and XPB antibodies were a gift from Jean Marc Egly and Dr Arjan de Brouwer for contribution to online supplementary data. This project was supported by NH&MRC programme grant 400121. JG was supported by a NH&MRC Principal Research Fellowship 1041920. MC was supported by an MS McLeod research fellowship from the WCH foundation.