Delineation of a Phenotype Caused by a <i>KAT6B</i> Missense Variant Not Resembling Say-Barber-Biesecker-Young-Simpson and Genitopatellar Syndromes.

Nishimura, Naoto; Enomoto, Yumi; Kumaki, Tatsuro; Murakami, Hiroaki; Ikeda, Azusa; Goto, Tomohide; Kurosawa, Kenji

Delineation of a Phenotype Caused by a KAT6B Missense Variant Not Resembling Say-Barber-Biesecker-Young-Simpson and Genitopatellar Syndromes.

Nishimura, Naoto; Enomoto, Yumi; Kumaki, Tatsuro; Murakami, Hiroaki; Ikeda, Azusa; Goto, Tomohide; Kurosawa, Kenji.

Afiliación

Nishimura N; Division of Medical Genetics, Kanagawa Children's Medical Center, Yokohama, Japan.
Enomoto Y; Department of Pediatrics, National Defense Medical College, Tokorozawa, Japan.
Kumaki T; Clinical Research Institute, Kanagawa Children's Medical Center, Yokohama, Japan.
Murakami H; Division of Medical Genetics, Kanagawa Children's Medical Center, Yokohama, Japan.
Ikeda A; Division of Medical Genetics, Kanagawa Children's Medical Center, Yokohama, Japan.
Goto T; Department of Neurology, Kanagawa Children's Medical Center, Yokohama, Japan.
Kurosawa K; Department of Neurology, Kanagawa Children's Medical Center, Yokohama, Japan.

Mol Syndromol ; 13(3): 221-225, 2022 May.

Article en En | MEDLINE | ID: mdl-35707592

Palabras clave

Genitopatellar syndrome; Genotype-phenotype correlation; Lysine acetyltransferase 6B; Say-Barber-Biesecker-Young-Simpson syndrome; Whole-exome sequencing

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Texto completo: 1 Colección: 01-internacional Banco de datos: MEDLINE Idioma: En Revista: Mol Syndromol Año: 2022 Tipo del documento: Article País de afiliación: Japón

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