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Heterozygous Deletion Impacting SMARCAD1 in the Original Kindred with Absent Dermatoglyphs and Associated Features (Baird, 1964).
Chang, Xiao; Li, Dong; Tian, Lifeng; Liu, Yichuan; March, Michael; Wang, Tiancheng; Hou, Cuiping; Pellegrino, Renata; Levy, Richard; Jen, Melinda; Soccio, Raymond; Sleiman, Patrick; Hakonarson, Hakon; Castelo-Soccio, Leslie.
Affiliation
  • Chang X; Center for Applied Genomics (CAG), The Children's Hospital of Philadelphia, Philadelphia, PA.
  • Li D; Center for Applied Genomics (CAG), The Children's Hospital of Philadelphia, Philadelphia, PA.
  • Tian L; Center for Applied Genomics (CAG), The Children's Hospital of Philadelphia, Philadelphia, PA.
  • Liu Y; Center for Applied Genomics (CAG), The Children's Hospital of Philadelphia, Philadelphia, PA.
  • March M; Center for Applied Genomics (CAG), The Children's Hospital of Philadelphia, Philadelphia, PA.
  • Wang T; Center for Applied Genomics (CAG), The Children's Hospital of Philadelphia, Philadelphia, PA.
  • Hou C; Center for Applied Genomics (CAG), The Children's Hospital of Philadelphia, Philadelphia, PA.
  • Pellegrino R; Center for Applied Genomics (CAG), The Children's Hospital of Philadelphia, Philadelphia, PA.
  • Levy R; Section of Dermatology, Department of Pediatrics, The Children's Hospital of Philadelphia and University of Pennsylvania Perlman School of Medicine, Philadelphia, PA.
  • Jen M; Section of Dermatology, Department of Pediatrics, The Children's Hospital of Philadelphia and University of Pennsylvania Perlman School of Medicine, Philadelphia, PA.
  • Soccio R; Department of Medicine, Division of Endocrinology, Diabetes, and Metabolism, University of Pennsylvania Perlman School of Medicine, Philadelphia, PA.
  • Sleiman P; Center for Applied Genomics (CAG), The Children's Hospital of Philadelphia, Philadelphia, PA; Division of Human Genetics Department of Pediatrics, Perelman School of Medicine, Philadelphia, PA.
  • Hakonarson H; Center for Applied Genomics (CAG), The Children's Hospital of Philadelphia, Philadelphia, PA; Division of Human Genetics Department of Pediatrics, Perelman School of Medicine, Philadelphia, PA.
  • Castelo-Soccio L; Section of Dermatology, Department of Pediatrics, The Children's Hospital of Philadelphia and University of Pennsylvania Perlman School of Medicine, Philadelphia, PA. Electronic address: castelosocciol@email.chop.edu.
J Pediatr ; 194: 248-252.e2, 2018 03.
Article in En | MEDLINE | ID: mdl-29269196
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Full text: 1 Database: MEDLINE Main subject: Skin Diseases, Genetic / Ectodermal Dysplasia / DNA Helicases / Nails, Malformed Type of study: Prognostic_studies / Risk_factors_studies Limits: Female / Humans / Male / Newborn Language: En Year: 2018 Type: Article
Fulltext
Print
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PubMed Links
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Full text: 1 Database: MEDLINE Main subject: Skin Diseases, Genetic / Ectodermal Dysplasia / DNA Helicases / Nails, Malformed Type of study: Prognostic_studies / Risk_factors_studies Limits: Female / Humans / Male / Newborn Language: En Year: 2018 Type: Article