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Expanding genotype-phenotype correlations in FOXG1 syndrome: results from a patient registry.
Brimble, Elise; Reyes, Kathryn G; Kuhathaas, Kopika; Devinsky, Orrin; Ruzhnikov, Maura R Z; Ortiz-Gonzalez, Xilma R; Scheffer, Ingrid; Bahi-Buisson, Nadia; Olson, Heather.
Affiliation
  • Brimble E; Invitae, San Francisco, CA, USA. elli.brimble@invitae.com.
  • Reyes KG; Cedars Sinai, Los Angeles, CA, USA.
  • Kuhathaas K; MGH Institute of Health Professions, Boston, MA, USA.
  • Devinsky O; NYU Langone Health, New York, NY, USA.
  • Ruzhnikov MRZ; U.S. Food and Drug Administration, Silver Spring, MD, USA.
  • Ortiz-Gonzalez XR; Children's Hospital of Philadelphia, Philadelphia, PA, USA.
  • Scheffer I; University of Melbourne, Melbourne, Australia.
  • Bahi-Buisson N; Paris Descartes University/Neckers Hospital, Paris, France.
  • Olson H; Boston Children's Hospital, Boston, MA, USA.
Orphanet J Rare Dis ; 18(1): 149, 2023 06 12.
Article in En | MEDLINE | ID: mdl-37308910
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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Rett Syndrome Limits: Humans Language: En Journal: Orphanet J Rare Dis Journal subject: MEDICINA Year: 2023 Document type: Article Affiliation country: Estados Unidos Country of publication: Reino Unido
Fulltext
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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Rett Syndrome Limits: Humans Language: En Journal: Orphanet J Rare Dis Journal subject: MEDICINA Year: 2023 Document type: Article Affiliation country: Estados Unidos Country of publication: Reino Unido