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PYCR2 Mutations cause a lethal syndrome of microcephaly and failure to thrive.
Zaki, Maha S; Bhat, Gifty; Sultan, Tipu; Issa, Mahmoud; Jung, Hea-Jin; Dikoglu, Esra; Selim, Laila; G Mahmoud, Imam; Abdel-Hamid, Mohamed S; Abdel-Salam, Ghada; Marin-Valencia, Isaac; Gleeson, Joseph G.
Affiliation
  • Zaki MS; Human Genetics and Genome Research Division, Clinical Genetics Department, National Research Center, Cairo, Egypt.
  • Bhat G; Laboratory for Pediatric Brain Disease, Howard Hughes Medical Institute, Rockefeller University, New York, NY.
  • Sultan T; Division of Pediatric Genetics, Children's Hospital at Montefiore, Bronx, NY.
  • Issa M; Pediatric Neurology, Institute of Child Health, Children Hospital, Lahore, Pakistan.
  • Jung HJ; Human Genetics and Genome Research Division, Clinical Genetics Department, National Research Center, Cairo, Egypt.
  • Dikoglu E; Laboratory for Pediatric Brain Disease, Howard Hughes Medical Institute, Rockefeller University, New York, NY.
  • Selim L; Laboratory for Pediatric Brain Disease, Howard Hughes Medical Institute, Rockefeller University, New York, NY.
  • G Mahmoud I; Cairo University Children's Hospital, Division of Neurology and Metabolic Disease, Cairo, Egypt.
  • Abdel-Hamid MS; Cairo University Children's Hospital, Division of Neurology and Metabolic Disease, Cairo, Egypt.
  • Abdel-Salam G; Department of Medical Molecular Genetics, Human Genetics and Genome Research Division, National Research Center, Cairo, Egypt.
  • Marin-Valencia I; Human Genetics and Genome Research Division, Clinical Genetics Department, National Research Center, Cairo, Egypt.
  • Gleeson JG; Laboratory for Pediatric Brain Disease, Howard Hughes Medical Institute, Rockefeller University, New York, NY.
Ann Neurol ; 80(1): 59-70, 2016 07.
Article in En | MEDLINE | ID: mdl-27130255
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Full text: 1 Database: MEDLINE Main subject: Pyrroline Carboxylate Reductases / Failure to Thrive / Microcephaly Type of study: Diagnostic_studies / Prognostic_studies Limits: Adolescent / Adult / Child / Child, preschool / Female / Humans / Infant / Male Language: En Journal: Ann Neurol Year: 2016 Type: Article Affiliation country: Egypt
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Full text: 1 Database: MEDLINE Main subject: Pyrroline Carboxylate Reductases / Failure to Thrive / Microcephaly Type of study: Diagnostic_studies / Prognostic_studies Limits: Adolescent / Adult / Child / Child, preschool / Female / Humans / Infant / Male Language: En Journal: Ann Neurol Year: 2016 Type: Article Affiliation country: Egypt