Refining the phenotypic spectrum of CCDC88A-related PEHO-like syndrome.

Issa, Mahmoud Y; Hafez, Mona A; Mounir, Samir M; Abdel Ghafar, Sherif F; Zaki, Maha S; Abdel-Hamid, Mohamed S

Issa, Mahmoud Y; Hafez, Mona A; Mounir, Samir M; Abdel Ghafar, Sherif F; Zaki, Maha S; Abdel-Hamid, Mohamed S.

Afiliación

Issa MY; Clinical Genetics Department, Human Genetics and Genome Research Institute, National Research Centre, Cairo, Egypt.
Hafez MA; Radiology Department, Faculty of Medicine, Cairo University, Cairo, Egypt.
Mounir SM; Pediatrics Department, Faculty of Medicine, Minia University, Minia, Egypt.
Abdel Ghafar SF; Medical Molecular Genetics Department, Human Genetics and Genome Research Institute, National Research Centre, Cairo, Egypt.
Zaki MS; Clinical Genetics Department, Human Genetics and Genome Research Institute, National Research Centre, Cairo, Egypt.
Abdel-Hamid MS; Medical Molecular Genetics Department, Human Genetics and Genome Research Institute, National Research Centre, Cairo, Egypt.

Am J Med Genet A ; 194(2): 226-232, 2024 Feb.

Article en En | MEDLINE | ID: mdl-37798908

Asunto(s)

Edema Encefálico; Enfermedades Neurodegenerativas; Atrofia Óptica; Espasmos Infantiles; Humanos; Niño; Femenino; Espasmos Infantiles/genética; Edema Encefálico/genética; Atrofia Óptica/genética; Síndrome; Proteínas de Microfilamentos/genética; Proteínas de Transporte Vesicular/genética

Palabras clave

CCDC88A gene; PEHO like syndrome; brain dysplasia; microcephaly; whole exome sequencing

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Texto completo: 1 Colección: 01-internacional Banco de datos: MEDLINE Asunto principal: Espasmos Infantiles / Edema Encefálico / Atrofia Óptica / Enfermedades Neurodegenerativas Tipo de estudio: Prognostic_studies Límite: Child / Female / Humans Idioma: En Revista: Am J Med Genet A Asunto de la revista: GENETICA MEDICA Año: 2024 Tipo del documento: Article País de afiliación: Egipto

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