Eye and ocular adnexa manifestations of <i>MED12</i>-related disorders.

Shah, Arth; Bapna, Monika; Al-Saif, Hind; Li, Rachel; Couser, Natario L

Eye and ocular adnexa manifestations of MED12-related disorders.

Shah, Arth; Bapna, Monika; Al-Saif, Hind; Li, Rachel; Couser, Natario L.

Afiliación

Shah A; Virginia Commonwealth University School of Medicine, Richmond, Virginia, USA.
Bapna M; Georgetown University School of Medicine, Washington, DC, USA.
Al-Saif H; Department of Human and Molecular Genetics, Virginia Commonwealth University School of Medicine, Richmond, Virginia, USA.
Li R; Department of Human and Molecular Genetics, Virginia Commonwealth University School of Medicine, Richmond, Virginia, USA.
Couser NL; Department of Human and Molecular Genetics, Virginia Commonwealth University School of Medicine, Richmond, Virginia, USA.

Ophthalmic Genet ; 43(1): 126-129, 2022 02.

Article en En | MEDLINE | ID: mdl-34670449

Asunto(s)

Astigmatismo; Discapacidad Intelectual; Femenino; Humanos; Discapacidad Intelectual/genética; Discapacidad Intelectual/patología; Complejo Mediador/genética; Complejo Mediador/metabolismo

Palabras clave

FG syndrome 1; Lujan-Fryns syndrome; MED12; Ohdo syndrome; nonspecific intellectual disability with variant in MED12; ocular abnormalities; ocular adnexa

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Texto completo: 1 Colección: 01-internacional Banco de datos: MEDLINE Asunto principal: Astigmatismo / Discapacidad Intelectual Tipo de estudio: Prognostic_studies / Systematic_reviews Límite: Female / Humans Idioma: En Revista: Ophthalmic Genet Asunto de la revista: GENETICA MEDICA / OFTALMOLOGIA Año: 2022 Tipo del documento: Article País de afiliación: Estados Unidos

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