M
Margo Whiteford
Publications - 3
Citations - 234
Margo Whiteford is an academic researcher. The author has contributed to research in topics: PAX3 & Microphthalmia-associated transcription factor. The author has an hindex of 3, co-authored 3 publications receiving 225 citations.
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The mutational spectrum in Waardenburg syndrome
Mayada Tassabehji,Valerie Newton,Xue Zhong Liu,Xue Zhong Liu,Angela F. Brady,Dian Donnai,Małgorzata Krajewska-Walasek,Victoria Murday,Andrew Norman,Ewa Obersztyn,William Reardon,J. Rice,Richard C. Trembath,Peter Wieacker,Margo Whiteford,Robin M. Winter,Andrew P. Read +16 more
TL;DR: One hundred and thirty-four families or individuals with auditory-pigmentary syndromes such as Waardenburg syndrome (WS) or probable neurocristopathies were screened for mutations in the PAX3 and MITF genes as mentioned in this paper.
Journal ArticleDOI
Clinical features and respiratory complications in Myhre syndrome
Ruth McGowan,Ramkumar Gulati,Pamela McHenry,A. Cooke,Sandra Butler,Wee Teik Keng,Victoria Murday,Margo Whiteford,Frederik G. Dikkers,Brigit Sikkema-Raddatz,Ton van Essen,John Tolmie +11 more
TL;DR: Heterogeneity in Myhre syndrome and clinical overlap with Laryngotracheal stenosis, Arthropathy, Prognathism and Short stature syndrome is suggested.
Journal ArticleDOI
Novel features in auriculo-condylar syndrome.
TL;DR: Nine ACS patients are described with novel clinical signs including facial clefts, pre-auricular and cheek pits further delineating the features of this highly variable condition.