Analysis of genotype-phenotype correlation in Walker-Warburg syndrome with a novel <i>CRPPA</i> mutation in different clinical manifestations.

Bayram, Nurettin; Bayram, Ayse Kaçar; Per, Hüseyin; Gümüs, Hakan; Ozsaygili, Cemal; Dogan, Mehmet Said; Çaglayan, Ahmet Okay

Analysis of genotype-phenotype correlation in Walker-Warburg syndrome with a novel CRPPA mutation in different clinical manifestations.

Bayram, Nurettin; Bayram, Ayse Kaçar; Per, Hüseyin; Gümüs, Hakan; Ozsaygili, Cemal; Dogan, Mehmet Said; Çaglayan, Ahmet Okay.

Afiliación

Bayram N; Department of Ophthalmology, University of Health Sciences, Kayseri City Training and Research Hospital, Kayseri, Turkey.
Bayram AK; Department of Pediatrics, Division of Pediatric Neurology, University of Health Sciences, Kayseri City Training and Research Hospital, Kayseri, Turkey.
Per H; Department of Pediatrics, Division of Pediatric Neurology, School of Medicine, Erciyes University, Kayseri, Turkey.
Gümüs H; Department of Pediatrics, Division of Pediatric Neurology, School of Medicine, Erciyes University, Kayseri, Turkey.
Ozsaygili C; Department of Ophthalmology, University of Health Sciences, Kayseri City Training and Research Hospital, Kayseri, Turkey.
Dogan MS; Department of Pediatric Radiology, School of Medicine, Erciyes University, Kayseri, Turkey.
Çaglayan AO; Department of Medical Genetics, School of Medicine, Dokuz Eylul University, Izmir, Turkey.

Eur J Ophthalmol ; 32(5): NP71-NP76, 2022 Sep.

Article en En | MEDLINE | ID: mdl-33977792

Asunto(s)

Catarata; Distrofias Musculares; Síndrome de Walker-Warburg; Catarata/diagnóstico; Catarata/genética; Anomalías del Ojo; Femenino; Estudios de Asociación Genética; Humanos; Distrofias Musculares/congénito; Distrofias Musculares/genética; Distrofias Musculares/patología; Mutación; Síndrome de Walker-Warburg/diagnóstico; Síndrome de Walker-Warburg/genética

Palabras clave

CRPPA gene mutation; Walker-Warburg syndrome; child; ocular manifestations; whole-exome sequencing

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Texto completo: 1 Colección: 01-internacional Banco de datos: MEDLINE Asunto principal: Catarata / Síndrome de Walker-Warburg / Distrofias Musculares Tipo de estudio: Diagnostic_studies / Prognostic_studies / Screening_studies Límite: Female / Humans Idioma: En Revista: Eur J Ophthalmol Asunto de la revista: OFTALMOLOGIA Año: 2022 Tipo del documento: Article País de afiliación: Turquía

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