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Biallelic Mutations in MITF Cause Coloboma, Osteopetrosis, Microphthalmia, Macrocephaly, Albinism, and Deafness.
George, Aman; Zand, Dina J; Hufnagel, Robert B; Sharma, Ruchi; Sergeev, Yuri V; Legare, Janet M; Rice, Gregory M; Scott Schwoerer, Jessica A; Rius, Mariana; Tetri, Laura; Gamm, David M; Bharti, Kapil; Brooks, Brian P.
Afiliación
  • George A; Ophthalmic Genetics and Visual Function Branch, National Eye Institute, NIH, Bethesda, MD 20892, USA.
  • Zand DJ; Children's National Medical Center, Washington, DC 20010, USA.
  • Hufnagel RB; Ophthalmic Genetics and Visual Function Branch, National Eye Institute, NIH, Bethesda, MD 20892, USA.
  • Sharma R; Unit on Ocular and Stem Cell Translational Research, National Eye Institute, NIH, Bethesda, MD 20892, USA.
  • Sergeev YV; Ophthalmic Genetics and Visual Function Branch, National Eye Institute, NIH, Bethesda, MD 20892, USA.
  • Legare JM; Department of Pediatrics, University of Wisconsin School of Medicine and Public Health, Madison, WI 53726, USA.
  • Rice GM; Department of Pediatrics, University of Wisconsin School of Medicine and Public Health, Madison, WI 53726, USA.
  • Scott Schwoerer JA; McPherson Eye Research Institute and Department of Ophthalmology and Visual Sciences, University of Wisconsin School of Medicine and Public Health, Madison, WI 53726, USA.
  • Rius M; Ophthalmic Genetics and Visual Function Branch, National Eye Institute, NIH, Bethesda, MD 20892, USA.
  • Tetri L; Department of Pediatrics, University of Wisconsin School of Medicine and Public Health, Madison, WI 53726, USA.
  • Gamm DM; Department of Pediatrics, University of Wisconsin School of Medicine and Public Health, Madison, WI 53726, USA; McPherson Eye Research Institute and Department of Ophthalmology and Visual Sciences, University of Wisconsin School of Medicine and Public Health, Madison, WI 53726, USA.
  • Bharti K; Unit on Ocular and Stem Cell Translational Research, National Eye Institute, NIH, Bethesda, MD 20892, USA.
  • Brooks BP; Ophthalmic Genetics and Visual Function Branch, National Eye Institute, NIH, Bethesda, MD 20892, USA; Children's National Medical Center, Washington, DC 20010, USA. Electronic address: brian.brooks1@nih.gov.
Am J Hum Genet ; 99(6): 1388-1394, 2016 Dec 01.
Article en En | MEDLINE | ID: mdl-27889061
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Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Asunto principal: Osteopetrosis / Albinismo / Coloboma / Microftalmía / Sordera / Alelos / Factor de Transcripción Asociado a Microftalmía / Megalencefalia Límite: Animals / Child, preschool / Female / Humans / Infant / Male Idioma: En Revista: Am J Hum Genet Año: 2016 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: Osteopetrosis / Albinismo / Coloboma / Microftalmía / Sordera / Alelos / Factor de Transcripción Asociado a Microftalmía / Megalencefalia Límite: Animals / Child, preschool / Female / Humans / Infant / Male Idioma: En Revista: Am J Hum Genet Año: 2016 Tipo del documento: Article País de afiliación: Estados Unidos Pais de publicación: Estados Unidos