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Proximal variants in CCND2 associated with microcephaly, short stature, and developmental delay: A case series and review of inverse brain growth phenotypes.
Pirozzi, Filomena; Lee, Benson; Horsley, Nicole; Burkardt, Deepika D; Dobyns, William B; Graham, John M; Dentici, Maria L; Cesario, Claudia; Schallner, Jens; Porrmann, Joseph; Di Donato, Nataliya; Sanchez-Lara, Pedro A; Mirzaa, Ghayda M.
Afiliación
  • Pirozzi F; Center for Integrative Brain Research, Seattle Children's Research Institute, Seattle, Washington, USA.
  • Lee B; Division of Medical Genetics, Department of Medicine, Veterans Affairs Greater Los Angeles Healthcare System, Los Angeles, California, USA.
  • Horsley N; Center for Integrative Brain Research, Seattle Children's Research Institute, Seattle, Washington, USA.
  • Burkardt DD; National Human Genome Research Institute, National Institutes of Health, Bethesda, Maryland, USA.
  • Dobyns WB; Division of Genetics and Metabolism, Department of Pediatrics, University of Minnesota, Minneapolis, Minnesota, USA.
  • Graham JM; Medical Genetics Institute, Cedars-Sinai Medical Center, David Geffen School of Medicine at UCLA, Los Angeles, California, USA.
  • Dentici ML; Medical Genetics Unit, Academic Department of Pediatrics, Bambino Gesù Children's Hospital, IRCSS, Rome, Italy.
  • Cesario C; Genetics and Rare Diseases Research Division, Bambino Gesù Children's Hospital, IRCSS, Rome, Italy.
  • Schallner J; Translational Cytogenomics Research Unit, Bambino Gesù Children's Hospital, IRCCS, Rome, Italy.
  • Porrmann J; Department of Neuropediatrics, School of Medicine, Carl Gustav Carus, TU Dresden, Dresden, Germany.
  • Di Donato N; Institute for Clinical Genetics, University Hospital, TU Dresden, Dresden, Germany.
  • Sanchez-Lara PA; Institute for Clinical Genetics, University Hospital, TU Dresden, Dresden, Germany.
  • Mirzaa GM; Medical Genetics Institute, Cedars-Sinai Medical Center, David Geffen School of Medicine at UCLA, Los Angeles, California, USA.
Am J Med Genet A ; 185(9): 2719-2738, 2021 09.
Article en En | MEDLINE | ID: mdl-34087052
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Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Asunto principal: Encéfalo / Polidactilia / Ciclina D2 / Megalencefalia / Polimicrogiria / Hidrocefalia / Mutación Tipo de estudio: Prognostic_studies / Risk_factors_studies Límite: Adolescent / Adult / Child / Female / Humans / Infant / Male Idioma: En Revista: Am J Med Genet A Asunto de la revista: GENETICA MEDICA Año: 2021 Tipo del documento: Article País de afiliación: Estados Unidos Pais de publicación: Estados Unidos
Texto completo
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Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Asunto principal: Encéfalo / Polidactilia / Ciclina D2 / Megalencefalia / Polimicrogiria / Hidrocefalia / Mutación Tipo de estudio: Prognostic_studies / Risk_factors_studies Límite: Adolescent / Adult / Child / Female / Humans / Infant / Male Idioma: En Revista: Am J Med Genet A Asunto de la revista: GENETICA MEDICA Año: 2021 Tipo del documento: Article País de afiliación: Estados Unidos Pais de publicación: Estados Unidos