Novel <i>PAX6</i> variant in a family with ophthalmologic, pancreatic, and olfactory features.

Buehne, Kristen L; Hart, Sarah; Williams, Bradley; Cohen, Jennifer L

Novel PAX6 variant in a family with ophthalmologic, pancreatic, and olfactory features.

Buehne, Kristen L; Hart, Sarah; Williams, Bradley; Cohen, Jennifer L.

Afiliación

Buehne KL; Department of Pediatrics, Division of Medical Genetics, Duke University School of Medicine, Durham, North Carolina 27710, USA.
Hart S; Department of Pediatrics, Division of Medical Genetics, Duke University School of Medicine, Durham, North Carolina 27710, USA.
Williams B; GeneDx, Inc., Gaithersburg, Maryland 20877, USA.
Cohen JL; Department of Pediatrics, Division of Medical Genetics, Duke University School of Medicine, Durham, North Carolina 27710, USA.

Cold Spring Harb Mol Case Stud ; 8(1)2022 01.

Article en En | MEDLINE | ID: mdl-34893493

Asunto(s)

Catarata; Catarata/genética; Exones; Humanos; Masculino; Mutación; Factor de Transcripción PAX6/genética; Linaje

Palabras clave

congenital nuclear cataract; diabetes mellitus; partial anosmia

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Texto completo: 1 Colección: 01-internacional Banco de datos: MEDLINE Asunto principal: Catarata Límite: Humans / Male Idioma: En Revista: Cold Spring Harb Mol Case Stud Año: 2022 Tipo del documento: Article País de afiliación: Estados Unidos

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