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Mosaicism for a SPRED1 deletion revealed in a patient with clinically suspected mosaic neurofibromatosis.
Jobling, R K; Lara-Corrales, I; Hsiao, M-C; Shugar, A; Hedges, S; Messiaen, L; Kannu, P.
Affiliation
  • Jobling RK; Division of Clinical and Metabolic Genetics, Department of Pediatrics, The Hospital for Sick Children, University of Toronto, Toronto, ON, Canada.
  • Lara-Corrales I; Section of Dermatology, Department of Pediatrics, The Hospital for Sick Children, University of Toronto, Toronto, ON, Canada.
  • Hsiao MC; Department of Genetics, Medical Genomics Laboratory, University of Alabama at Birmingham, Birmingham, AL, U.S.A.
  • Shugar A; Division of Clinical and Metabolic Genetics, Department of Pediatrics, The Hospital for Sick Children, University of Toronto, Toronto, ON, Canada.
  • Hedges S; Division of Clinical and Metabolic Genetics, Department of Pediatrics, The Hospital for Sick Children, University of Toronto, Toronto, ON, Canada.
  • Messiaen L; Department of Genetics, Medical Genomics Laboratory, University of Alabama at Birmingham, Birmingham, AL, U.S.A.
  • Kannu P; Division of Clinical and Metabolic Genetics, Department of Pediatrics, The Hospital for Sick Children, University of Toronto, Toronto, ON, Canada.
Br J Dermatol ; 176(4): 1077-1078, 2017 04.
Article in En | MEDLINE | ID: mdl-27423141
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Full text: 1 Database: MEDLINE Main subject: Sequence Deletion / Cafe-au-Lait Spots / Intracellular Signaling Peptides and Proteins / Membrane Proteins / Mosaicism Type of study: Diagnostic_studies Limits: Adolescent / Humans / Male Language: En Year: 2017 Type: Article
Fulltext
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PubMed Links
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Full text: 1 Database: MEDLINE Main subject: Sequence Deletion / Cafe-au-Lait Spots / Intracellular Signaling Peptides and Proteins / Membrane Proteins / Mosaicism Type of study: Diagnostic_studies Limits: Adolescent / Humans / Male Language: En Year: 2017 Type: Article