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A heterozygous mutation in RPGR associated with X-linked retinitis pigmentosa in a patient with Turner syndrome mosaicism (45,X/46,XX).
Zhou, Qi; Yao, Fengxia; Wang, Feng; Li, Hui; Chen, Rui; Sui, Ruifang.
Affiliation
  • Zhou Q; Department of Ophthalmology, Peking Union Medical College Hospital, Peking Union Medical College and Chinese Academy of Medical Sciences, Beijing, China.
  • Yao F; Laboratory of Clinical Genetics, Peking Union Medical College Hospital, Peking Union Medical College and Chinese Academy of Medical Sciences, Beijing, China.
  • Wang F; Human Genome Sequencing Center, Baylor College of Medicine, Houston, Texas.
  • Li H; Department of Ophthalmology, Peking Union Medical College Hospital, Peking Union Medical College and Chinese Academy of Medical Sciences, Beijing, China.
  • Chen R; Human Genome Sequencing Center, Baylor College of Medicine, Houston, Texas.
  • Sui R; Department of Ophthalmology, Peking Union Medical College Hospital, Peking Union Medical College and Chinese Academy of Medical Sciences, Beijing, China.
Am J Med Genet A ; 176(1): 214-218, 2018 01.
Article in En | MEDLINE | ID: mdl-29135076
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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Turner Syndrome / Retinitis Pigmentosa / Genes, X-Linked / Eye Proteins / Heterozygote / Mutation Type of study: Risk_factors_studies Limits: Adult / Female / Humans / Male Language: En Journal: Am J Med Genet A Journal subject: GENETICA MEDICA Year: 2018 Document type: Article Affiliation country: China Country of publication: United States
Fulltext
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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Turner Syndrome / Retinitis Pigmentosa / Genes, X-Linked / Eye Proteins / Heterozygote / Mutation Type of study: Risk_factors_studies Limits: Adult / Female / Humans / Male Language: En Journal: Am J Med Genet A Journal subject: GENETICA MEDICA Year: 2018 Document type: Article Affiliation country: China Country of publication: United States