Funder
Department of Health | National Health and Medical Research Council
Hope for Hypothalamic Hamartoma Foundation
Publisher
Springer Science and Business Media LLC
Subject
Genetics (clinical),Genetics
Reference18 articles.
1. Khawaja AM, Pati S, Ng Y-T. Topical review: management of epilepsy due to hypothalamic hamartomas. Pediatr Neurol. 2017;75:29–42.
2. Biesecker LG. Pallister-Hall syndrome In: GeneReviews. University of Washington, Seattle; 1993-2021. 2000 [updated May 18th 2017]. https://www.ncbi.nlm.nih.gov/books/NBK1465/?report=classic. Accessed 27 July 2021.
3. Johnston JJ, Olivos-Glander I, Killoran C, Elson E, Turner JT, Peters KF. et al. Molecular and clinical analyses of Greig Cephalopolysyndactyly and Pallister-Hall syndromes: robust phenotype prediction from the type and position of GLI3 mutations. Am J Hum Genet. 2005;76:609–22.
4. Kang S, Graham JM,Jr., Olney AH, Biesecker L. GLI3 frameshift mutations cause autosomal dominant Pallister-Hall syndrome. Nat Genet. 1997;15:266–8.
5. Bonnard C, Shboul M, Tonekaboni SH, Ng AYJ, Tohari S, Ghosh K, et al. Novel mutations in the ciliopathy-associated gene CPLANE1 (C5orf42) cause OFD syndrome type VI rather than Joubert syndrome. Eur J Hum Genet. 2018;61:585–95.
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