Compound heterozygous variants in the multiple PDZ domain protein (MPDZ) cause a case of mild non-progressive communicating hydrocephalus.

Al-Jezawi, Nesreen K; Al-Shamsi, Aisha M; Suleiman, Jehan; Ben-Salem, Salma; John, Anne; Vijayan, Ranjit; Ali, Bassam R; Al-Gazali, Lihadh

Al-Jezawi, Nesreen K; Al-Shamsi, Aisha M; Suleiman, Jehan; Ben-Salem, Salma; John, Anne; Vijayan, Ranjit; Ali, Bassam R; Al-Gazali, Lihadh.

Afiliación

Al-Jezawi NK; Department of Pathology, College of Medicine and Heath Sciences, United Arab Emirates University, P.O. Box 17666, Al-Ain, United Arab Emirates.
Al-Shamsi AM; Department of Paediatrics, Tawam Hospital, Al-Ain, United Arab Emirates.
Suleiman J; Department of Paediatrics, College of Medicine and Heath Sciences, United Arab Emirates University, P.O. Box 17666, Al-Ain, United Arab Emirates.
Ben-Salem S; Department of Pathology, College of Medicine and Heath Sciences, United Arab Emirates University, P.O. Box 17666, Al-Ain, United Arab Emirates.
John A; Department of Pathology, College of Medicine and Heath Sciences, United Arab Emirates University, P.O. Box 17666, Al-Ain, United Arab Emirates.
Vijayan R; Department of Biology, College of Science, United Arab Emirates University, Al Ain, United Arab Emirates.
Ali BR; Department of Pathology, College of Medicine and Heath Sciences, United Arab Emirates University, P.O. Box 17666, Al-Ain, United Arab Emirates. bassam.ali@uaeu.ac.ae.
Al-Gazali L; Department of Paediatrics, College of Medicine and Heath Sciences, United Arab Emirates University, P.O. Box 17666, Al-Ain, United Arab Emirates. l.algazali@uaeu.ac.ae.

BMC Med Genet ; 19(1): 34, 2018 03 02.

Article en En | MEDLINE | ID: mdl-29499638

Asunto(s)

Heterocigoto; Hidrocefalia/diagnóstico por imagen; Hidrocefalia/genética; Molécula L1 de Adhesión de Célula Nerviosa/genética; Dominios PDZ/genética; Secuencia de Aminoácidos; Encéfalo/metabolismo; Adhesión Celular; Genes Recesivos; Variación Genética; Células HEK293; Células HeLa; Humanos; Lactante; Masculino; Mutación; Neuronas/citología; Neuronas/efectos de los fármacos; Linaje; Conformación Proteica; Análisis de Secuencia de ADN; Secuenciación del Exoma

Palabras clave

Autosomal recessive; Compound heterozygous variants; Congenital hydrocephalus; L1CAM; Multiple PDZ

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Texto completo: 1 Base de datos: MEDLINE Asunto principal: Molécula L1 de Adhesión de Célula Nerviosa / Dominios PDZ / Heterocigoto / Hidrocefalia Tipo de estudio: Prognostic_studies Idioma: En Revista: BMC Med Genet Asunto de la revista: GENETICA MEDICA Año: 2018 Tipo del documento: Article

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