Human Genome Epidemiology Literature Finder
Records 1 - 4 (of 4 Records) |
Query Trace: Deafness and MPZL2[original query] |
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Significant Mendelian genetic contribution to pediatric mild-to-moderate hearing loss and its comprehensive diagnostic approach. Genetics in medicine : official journal of the American College of Medical Genetics 2020 Mar . Kim Bong Jik, Oh Doo-Yi, Han Jin Hee, Oh Jayoung, Kim Min Young, Park Hye-Rim, Seok Jungirl, Cho Sung-Dong, Lee Sang-Yeon, Kim Yoonjoong, Carandang Marge, Kwon In Sun, Lee Seungmin, Jang Jeong Hun, Choung Yun-Hoon, Lee Sejoon, Lee Hakmin, Hwang Sang Mee, Choi Byung Yo |
A homozygous MPZL2 deletion is associated with non syndromic hearing loss in a moroccan family. International journal of pediatric otorhinolaryngology 2020 11 140 110481. Amalou Ghita, Bonnet Crystel, Riahi Zied, Bouzidi Aymane, Elrharchi Soukaina, Bousfiha Amale, Charif Majida, Kandil Mostafa, Lenaers Guy, Petit Christine, Barakat Abdelham |
MPZL2 variant analysis with whole exome sequencing in a cohort of Chinese hearing loss patients. International journal of pediatric otorhinolaryngology 2023 6 171 111635. Weitao Li, Luo Guo, Bing Chen, Yilai Shu, Huawei |
MPZL2-a common autosomal recessive deafness gene related to moderate sensorineural hearing loss in the Chinese population. BMC medical genomics 2024 1 17 (1): 32. Lang Zhang, Jin-Yuan Yang, Qiu-Quan Wang, Xue Gao, Guo-Jian Wang, Ming-Yu Han, Dong-Yang Kang, Dong-Yi Han, Sha-Sha Huang, Yong-Yi Yu |
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