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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.
Afiliación
  • 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 en En | MEDLINE | ID: mdl-29269196

Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Asunto principal: Enfermedades Cutáneas Genéticas / Displasia Ectodérmica / ADN Helicasas / Uñas Malformadas Tipo de estudio: Prognostic_studies / Risk_factors_studies Límite: Female / Humans / Male / Newborn Idioma: En Revista: J Pediatr Año: 2018 Tipo del documento: Article País de afiliación: Panamá Pais de publicación: Estados Unidos

Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Asunto principal: Enfermedades Cutáneas Genéticas / Displasia Ectodérmica / ADN Helicasas / Uñas Malformadas Tipo de estudio: Prognostic_studies / Risk_factors_studies Límite: Female / Humans / Male / Newborn Idioma: En Revista: J Pediatr Año: 2018 Tipo del documento: Article País de afiliación: Panamá Pais de publicación: Estados Unidos