2. Academic Validation
  3. Expansion of the clinical phenotype associated with mutations in activity-dependent neuroprotective protein

Expansion of the clinical phenotype associated with mutations in activity-dependent neuroprotective protein

  • J Med Genet. 2014 Sep;51(9):587-9. doi: 10.1136/jmedgenet-2014-102444.
Matthew F Pescosolido 1,  Matthew Schwede 2,  Ashley Johnson Harrison 3,  Michael Schmidt 4,  Ece D Gamsiz 5,  Wendy S Chen 6,  John P Donahue 6,  Natasha Shur 7,  Beth A Jerskey 3,  Chanika Phornphutkul 8,  Eric M Morrow 5
Affiliations

Affiliations

  • 1 Department of Molecular Biology, Cell Biology and Biochemistry, Providence, Rhode Island, USA Lab for Molecular Medicine, Institute for Brain Science, Brown University, Providence, Rhode Island, USA Developmental Disorders Genetics Research Program, Emma Pendleton Bradley Hospital and Department of Psychiatry and Human Behavior, Alpert Medical School of Brown University, East Providence, Rhode Island, USA Rhode Island Consortium of Autism Research and Treatment (RI-CART), Providence, Rhode Island, USA.
  • 2 Department of Molecular Biology, Cell Biology and Biochemistry, Providence, Rhode Island, USA.
  • 3 Developmental Disorders Genetics Research Program, Emma Pendleton Bradley Hospital and Department of Psychiatry and Human Behavior, Alpert Medical School of Brown University, East Providence, Rhode Island, USA Rhode Island Consortium of Autism Research and Treatment (RI-CART), Providence, Rhode Island, USA.
  • 4 Department of Molecular Biology, Cell Biology and Biochemistry, Providence, Rhode Island, USA Rhode Island Consortium of Autism Research and Treatment (RI-CART), Providence, Rhode Island, USA.
  • 5 Department of Molecular Biology, Cell Biology and Biochemistry, Providence, Rhode Island, USA Developmental Disorders Genetics Research Program, Emma Pendleton Bradley Hospital and Department of Psychiatry and Human Behavior, Alpert Medical School of Brown University, East Providence, Rhode Island, USA Rhode Island Consortium of Autism Research and Treatment (RI-CART), Providence, Rhode Island, USA.
  • 6 Division of Ophthalmology, Department of Surgery, Alpert Medical School of Brown University, Providence, Rhode Island, USA.
  • 7 Department of Pediatrics, Division of Genetics, Children's Hospital at Albany Medical Center, Albany, New York, USA.
  • 8 Department of Pediatrics, Division of Human Genetics, Rhode Island Hospital and Brown University, Providence, Rhode Island, USA.
PMID: 25057125 DOI: 10.1136/jmedgenet-2014-102444
Keywords

Clinical genetics; Genetics; Molecular genetics; Neurosciences; Visual development.

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