Blepharophimosis-ptosis-intellectual disability syndrome: A report of nine Egyptian patients with further expansion of phenotypic and mutational spectrum.

Zaki, Maha S; Otaify, Ghada A; Ismail, Samira; Issa, Mahmoud Y; El-Ruby, Mona O; Sadek, Abdelrahim A; Ashaat, Engy A; El Saeidi, Sonia A; Aglan, Mona S; Temtamy, Samia; Abdel-Hamid, Mohamed S

Zaki, Maha S; Otaify, Ghada A; Ismail, Samira; Issa, Mahmoud Y; El-Ruby, Mona O; Sadek, Abdelrahim A; Ashaat, Engy A; El Saeidi, Sonia A; Aglan, Mona S; Temtamy, Samia; Abdel-Hamid, Mohamed S.

Afiliação

Zaki MS; Department of Clinical Genetics, Human Genetics and Genome Research Division, National Research Centre, Cairo, Egypt.
Otaify GA; Department of Clinical Genetics, Human Genetics and Genome Research Division, National Research Centre, Cairo, Egypt.
Ismail S; Department of Clinical Genetics, Human Genetics and Genome Research Division, National Research Centre, Cairo, Egypt.
Issa MY; Department of Clinical Genetics, Human Genetics and Genome Research Division, National Research Centre, Cairo, Egypt.
El-Ruby MO; Department of Clinical Genetics, Human Genetics and Genome Research Division, National Research Centre, Cairo, Egypt.
Sadek AA; Department of Pediatric Neurology, Faculty of Medicine, Sohag University, Sohag, Egypt.
Ashaat EA; Department of Clinical Genetics, Human Genetics and Genome Research Division, National Research Centre, Cairo, Egypt.
El Saeidi SA; Department of Pediatric Cardiology, Faculty of Medicine, Cairo University, Cairo, Egypt.
Aglan MS; Department of Clinical Genetics, Human Genetics and Genome Research Division, National Research Centre, Cairo, Egypt.
Temtamy S; Department of Clinical Genetics, Human Genetics and Genome Research Division, National Research Centre, Cairo, Egypt.
Abdel-Hamid MS; Medical Molecular Genetics Department, Human Genetics and Genome Research Division, National Research Centre, Cairo, Egypt.

Am J Med Genet A ; 182(12): 2857-2866, 2020 12.

Article em En | MEDLINE | ID: mdl-32949109

Assuntos

Blefarofimose/genética; Homozigoto; Deficiência Intelectual/genética; Mutação; Fenótipo; Anormalidades da Pele/genética; Ubiquitina-Proteína Ligases/genética; Anormalidades Urogenitais/genética; Blefarofimose/patologia; Criança; Pré-Escolar; Egito; Feminino; Humanos; Lactente; Recém-Nascido; Deficiência Intelectual/patologia; Masculino; Linhagem; Anormalidades da Pele/patologia; Anormalidades Urogenitais/patologia

Palavras-chave

Egyptian patients; UBE3B gene; blepharophimosis-intellectual disability syndromes; blepharophimosis-ptosis-intellectual disability syndrome; novel variants

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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Fenótipo / Anormalidades da Pele / Anormalidades Urogenitais / Blefarofimose / Ubiquitina-Proteína Ligases / Homozigoto / Deficiência Intelectual / Mutação Limite: Child / Child, preschool / Female / Humans / Infant / Male / Newborn País/Região como assunto: Africa Idioma: En Revista: Am J Med Genet A Assunto da revista: GENETICA MEDICA Ano de publicação: 2020 Tipo de documento: Article País de afiliação: Egito País de publicação: Estados Unidos

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