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Addition of an affected family member to a previously ascertained autosomal recessive nonsyndromic hearing loss pedigree and systematic phenotype-genotype analysis of splice-site variants in MYO15A.
Yang, Jin-Yuan; Wang, Wei-Qian; Han, Ming-Yu; Huang, Sha-Sha; Wang, Guo-Jian; Su, Yu; Xu, Jin-Cao; Fu, Ying; Kang, Dong-Yang; Yang, Kun; Zhang, Xin; Liu, Xing; Gao, Xue; Yuan, Yong-Yi; Dai, Pu.
Afiliação
  • Yang JY; College of Otolaryngology Head and Neck Surgery, Chinese PLA General Hospital, Chinese PLA Medical School, 28 Fuxing Road, Beijing, 100853, People's Republic of China.
  • Wang WQ; National Clinical Research Center for Otolaryngologic Diseases, State Key Lab of Hearing Science, Ministry of Education, Beijing, People's Republic of China.
  • Han MY; Beijing Key Lab of Hearing Impairment Prevention and Treatment, Beijing, People's Republic of China.
  • Huang SS; College of Otolaryngology Head and Neck Surgery, Chinese PLA General Hospital, Chinese PLA Medical School, 28 Fuxing Road, Beijing, 100853, People's Republic of China.
  • Wang GJ; National Clinical Research Center for Otolaryngologic Diseases, State Key Lab of Hearing Science, Ministry of Education, Beijing, People's Republic of China.
  • Su Y; Beijing Key Lab of Hearing Impairment Prevention and Treatment, Beijing, People's Republic of China.
  • Xu JC; Department of Otolaryngology, PLA Rocket Force Characteristic Medical Center, 16# XinWai Da Jie, Beijing, 100088, People's Republic of China.
  • Fu Y; College of Otolaryngology Head and Neck Surgery, Chinese PLA General Hospital, Chinese PLA Medical School, 28 Fuxing Road, Beijing, 100853, People's Republic of China.
  • Kang DY; National Clinical Research Center for Otolaryngologic Diseases, State Key Lab of Hearing Science, Ministry of Education, Beijing, People's Republic of China.
  • Yang K; Beijing Key Lab of Hearing Impairment Prevention and Treatment, Beijing, People's Republic of China.
  • Zhang X; College of Otolaryngology Head and Neck Surgery, Chinese PLA General Hospital, Chinese PLA Medical School, 28 Fuxing Road, Beijing, 100853, People's Republic of China.
  • Liu X; National Clinical Research Center for Otolaryngologic Diseases, State Key Lab of Hearing Science, Ministry of Education, Beijing, People's Republic of China.
  • Gao X; Beijing Key Lab of Hearing Impairment Prevention and Treatment, Beijing, People's Republic of China.
  • Yuan YY; College of Otolaryngology Head and Neck Surgery, Chinese PLA General Hospital, Chinese PLA Medical School, 28 Fuxing Road, Beijing, 100853, People's Republic of China.
  • Dai P; National Clinical Research Center for Otolaryngologic Diseases, State Key Lab of Hearing Science, Ministry of Education, Beijing, People's Republic of China.
BMC Med Genomics ; 15(1): 241, 2022 11 18.
Article em En | MEDLINE | ID: mdl-36401330
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Texto completo: 1 Base de dados: MEDLINE Assunto principal: Surdez / Perda Auditiva Tipo de estudo: Prognostic_studies Limite: Humans Idioma: En Revista: BMC Med Genomics Assunto da revista: GENETICA MEDICA Ano de publicação: 2022 Tipo de documento: Article
Texto completo
Imprimir
XML
PubMed Links
Buscar no Google

Texto completo: 1 Base de dados: MEDLINE Assunto principal: Surdez / Perda Auditiva Tipo de estudo: Prognostic_studies Limite: Humans Idioma: En Revista: BMC Med Genomics Assunto da revista: GENETICA MEDICA Ano de publicação: 2022 Tipo de documento: Article