Novel, homozygous RAB3GAP1 c.2606 + 1G>A, p.Glu830ValfsTer9 variant and chromosome 3q29 duplication in a Turkish individual with Warburg micro syndrome.

Geckinli, Bilge; Turkyilmaz, Ayberk; Alavanda, Ceren; Sager, Gunes; Arslan Ates, Esra; Soylemez, Mehmet Ali; Arman, Ahmet

Geckinli, Bilge; Turkyilmaz, Ayberk; Alavanda, Ceren; Sager, Gunes; Arslan Ates, Esra; Soylemez, Mehmet Ali; Arman, Ahmet.

Afiliação

Geckinli B; Department of Medical Genetics, Marmara University School of Medicine, Istanbul.
Turkyilmaz A; Department of Medical Genetics, Marmara University School of Medicine, Istanbul.
Alavanda C; Department of Medical Genetics, Karadeniz Technical University School of Medicine, Trabzon.
Sager G; Department of Medical Genetics, Marmara University School of Medicine, Istanbul.
Arslan Ates E; Department of Pediatric Neurology, Marmara University School of Medicine.
Soylemez MA; Pediatric Neurology, Kartal Dr. Lutfi Kirdar City Hospital.
Arman A; Department of Medical Genetics, Marmara University Pendik Training and Research Hospital, Istanbul, Turkey.

Clin Dysmorphol ; 32(2): 55-61, 2023 Apr 01.

Article em En | MEDLINE | ID: mdl-36876345

Assuntos

Catarata; Microcefalia; Atrofia Óptica; Humanos; Cromossomos; Proteínas rab3 de Ligação ao GTP

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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Catarata / Atrofia Óptica / Microcefalia Limite: Humans Idioma: En Revista: Clin Dysmorphol Ano de publicação: 2023 Tipo de documento: Article

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