Your browser doesn't support javascript.
loading
Expanding the genotypic spectrum of Jalili syndrome: Novel CNNM4 variants and uniparental isodisomy in a north American patient cohort.
Prasov, Lev; Ullah, Ehsan; Turriff, Amy E; Warner, Blake M; Conley, Julie; Mark, Paul R; Hufnagel, Robert B; Huryn, Laryssa A.
Affiliation
  • Prasov L; Ophthalmic Genetics and Visual Function Branch, National Eye Institute, National Institutes of Health, Bethesda, Maryland.
  • Ullah E; Department of Ophthalmology and Visual Sciences, W.K. Kellogg Eye Center, University of Michigan, Ann Arbor, Michigan.
  • Turriff AE; Department of Human Genetics, University of Michigan, Ann Arbor, Michigan.
  • Warner BM; Ophthalmic Genetics and Visual Function Branch, National Eye Institute, National Institutes of Health, Bethesda, Maryland.
  • Conley J; Ophthalmic Genetics and Visual Function Branch, National Eye Institute, National Institutes of Health, Bethesda, Maryland.
  • Mark PR; National Institute of Dental and Craniofacial Research, National Institutes of Health, Bethesda, Maryland.
  • Hufnagel RB; Section of Pediatric Ophthalmology, Helen DeVos Children's Hospital, Grand Rapids, Michigan.
  • Huryn LA; Spectrum Health Division of Medical Genetics, Grand Rapids, Michigan.
Am J Med Genet A ; 182(3): 493-497, 2020 03.
Article in En | MEDLINE | ID: mdl-32022389
Subject(s)
Key words
Fulltext
Add to My VHL
Print
XML
PubMed Links
Search on Google

Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Uniparental Disomy / Cation Transport Proteins / Cone-Rod Dystrophies / Amelogenesis Imperfecta Type of study: Diagnostic_studies / Guideline Limits: Adolescent / Female / Humans / Male Language: En Journal: Am J Med Genet A Journal subject: GENETICA MEDICA Year: 2020 Document type: Article Country of publication:
Fulltext
Add to My VHL
Print
XML
PubMed Links
Search on Google

Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Uniparental Disomy / Cation Transport Proteins / Cone-Rod Dystrophies / Amelogenesis Imperfecta Type of study: Diagnostic_studies / Guideline Limits: Adolescent / Female / Humans / Male Language: En Journal: Am J Med Genet A Journal subject: GENETICA MEDICA Year: 2020 Document type: Article Country of publication: