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Partial uniparental isodisomy of chromosome 16 unmasks a deleterious biallelic mutation in IFT140 that causes Mainzer-Saldino syndrome.
Helm, Benjamin M; Willer, Jason R; Sadeghpour, Azita; Golzio, Christelle; Crouch, Eric; Vergano, Samantha Schrier; Katsanis, Nicholas; Davis, Erica E.
Affiliation
  • Helm BM; Division of Medical Genetics and Metabolism, Children's Hospital of The King's Daughters, Norfolk, VA, 23507, USA.
  • Willer JR; Department of Medical & Molecular Genetics, Riley Hospital for Children at IU Health, Indiana University School of Medicine, Indianapolis, IN, 46202, USA.
  • Sadeghpour A; Center for Human Disease Modeling, Duke University Medical Center, Durham, NC, 27701, USA.
  • Golzio C; Center for Human Disease Modeling, Duke University Medical Center, Durham, NC, 27701, USA.
  • Crouch E; Center for Human Disease Modeling, Duke University Medical Center, Durham, NC, 27701, USA.
  • Vergano SS; Institute of Genetics and Molecular and Cellular Biology, 67404, Illkirch, France.
  • Katsanis N; Department of Ophthalmology, Children's Hospital of the King's Daughters, Norfolk, VA, 23507, USA.
  • Davis EE; Division of Medical Genetics and Metabolism, Children's Hospital of The King's Daughters, Norfolk, VA, 23507, USA.
Hum Genomics ; 11(1): 16, 2017 07 19.
Article in En | MEDLINE | ID: mdl-28724397
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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: B-Lymphocytes / Carrier Proteins / Cerebellar Ataxia / Retinitis Pigmentosa / Mutation, Missense Type of study: Etiology_studies / Prognostic_studies Limits: Animals / Child, preschool / Female / Humans / Male Language: En Journal: Hum Genomics Journal subject: GENETICA Year: 2017 Document type: Article Affiliation country: United States Country of publication: United kingdom
Fulltext
Add to My VHL
Print
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PubMed Links
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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: B-Lymphocytes / Carrier Proteins / Cerebellar Ataxia / Retinitis Pigmentosa / Mutation, Missense Type of study: Etiology_studies / Prognostic_studies Limits: Animals / Child, preschool / Female / Humans / Male Language: En Journal: Hum Genomics Journal subject: GENETICA Year: 2017 Document type: Article Affiliation country: United States Country of publication: United kingdom