A novel frameshift variant in proximal exon 18 of KAT6B gene associated with an overlapping genitopatellar/say barber Biesecker-Young-Simpson syndrome phenotype.

Turkyilmaz, Ayberk; Ozden, Ayse

Turkyilmaz, Ayberk; Ozden, Ayse.

Turkyilmaz A; Department of Medical Genetics, Karadeniz Technical University Faculty of Medicine, Trabzon.
Ozden A; Department of Pediatric Endocrinology, Erzurum City Hospital, Erzurum, Turkey.

Clin Dysmorphol ; 30(4): 197-200, 2021 Oct 01.

Article en En | MEDLINE | ID: mdl-34074951

Asunto(s)

Blefarofimosis; Blefarofimosis/genética; Hipotiroidismo Congénito; Exones/genética; Facies; Cardiopatías Congénitas; Histona Acetiltransferasas/genética; Humanos; Discapacidad Intelectual; Inestabilidad de la Articulación; Fenotipo

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Texto completo: 1 Banco de datos: MEDLINE Asunto principal: Blefarofimosis Tipo de estudio: Risk_factors_studies Límite: Humans Idioma: En Año: 2021 Tipo del documento: Article

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