Latest Genetic Publications
Hereditary Neuropathy with Liability to Pressure Palsies
Chrestian N. Hereditary Neuropathy with Liability to Pressure Palsies. 1998 Sep 28 [Updated 2020 Aug 27]. In: Adam MP, Ardinger HH, Pagon RA, et al., editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2020. Available from: https://www.ncbi.nlm.nih.gov/books/NBK1392/
Identification of four novel mutations in the COL4A5 gene identified in Chinese patients with X-linked Alport syndrome
Zhao, Xuechao & Chen, Chen & Wei, Yanfu & Zhao, Ganye & Liu, Lina & Wang, Conghui & Zhang, Junjun & Kong, Xiangdong. (2019). Novel mutations of COL4A3, COL4A4, and COL4A5 genes in Chinese patients with Alport Syndrome using next generation sequence technique. Molecular Genetics & Genomic Medicine. 7. 10.1002/mgg3.653.
PACS1 Neurodevelopmental Disorder
Lusk L, Smith S, Martin C, et al. PACS1 Neurodevelopmental Disorder. 2020 Jul 16. In: Adam MP, Ardinger HH, Pagon RA, et al., editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2020. Available from: https://www.ncbi.nlm.nih.gov/books/NBK559434/
Genetic tests by next-generation sequencing in children with developmental delay and/or intellectual disability
Han, Ji Yoon, and In Goo Lee. “Genetic tests by next-generation sequencing in children with developmental delay and/or intellectual disability.” Clinical and experimental pediatrics vol. 63,6 (2020): 195-202. doi:10.3345/kjp.2019.00808
Bardet-Biedl Syndrome Overview
Forsyth RL, Gunay-Aygun M. Bardet-Biedl Syndrome Overview. 2003 Jul 14 [Updated 2020 Jul 23]. In: Adam MP, Ardinger HH, Pagon RA, et al., editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2020. Available from: https://www.ncbi.nlm.nih.gov/books/NBK1363/