A recessive truncating variant in thrombospondin-1 domain containing protein 1 gene THSD1 is the underlying cause of nonimmune hydrops fetalis, congenital cardiac defects, and haemangiomas in four patients from a consanguineous family.

Abdelrahman, Hanadi A; Al-Shamsi, Aisha; John, Anne; Hertecant, Jozef; Lootah, Ali; Ali, Bassam R; Al-Gazali, Lihadh

Abdelrahman, Hanadi A; Al-Shamsi, Aisha; John, Anne; Hertecant, Jozef; Lootah, Ali; Ali, Bassam R; Al-Gazali, Lihadh.

Afiliación

Abdelrahman HA; Department of Pathology, College of Medicine and Heath Sciences, United Arab Emirates University Al-Ain, United Arab Emirates.
Al-Shamsi A; Department of Paediatrics, Tawam Hospital, Al-Ain, United Arab Emirates.
John A; Department of Pathology, College of Medicine and Heath Sciences, United Arab Emirates University Al-Ain, United Arab Emirates.
Hertecant J; Department of Paediatrics, Tawam Hospital, Al-Ain, United Arab Emirates.
Lootah A; Department of Paediatrics, Tawam Hospital, Al-Ain, United Arab Emirates.
Ali BR; Department of Pathology, College of Medicine and Heath Sciences, United Arab Emirates University Al-Ain, United Arab Emirates.
Al-Gazali L; Zayed Center for Health Sciences, United Arab Emirates University, Al-Ain, United Arab Emirates.

Am J Med Genet A ; 176(9): 1996-2003, 2018 09.

Article en En | MEDLINE | ID: mdl-30055085

Asunto(s)

Cardiopatías Congénitas/diagnóstico; Cardiopatías Congénitas/genética; Hemangioma/diagnóstico; Hemangioma/genética; Hidropesía Fetal/diagnóstico; Hidropesía Fetal/genética; Mutación; Trombospondinas/genética; Alelos; Preescolar; Biología Computacional/métodos; Consanguinidad; Análisis Mutacional de ADN; Femenino; Estudios de Asociación Genética; Genotipo; Humanos; Lactante; Masculino; Análisis de Secuencia de ADN; Síndrome; Secuenciación del Exoma

Palabras clave

congenital heart defects; exome sequencing reanalysis; haemangioma; nonimmune hydrops fetalis; thrombospondin 1 domain containing protein 1

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Texto completo: 1 Colección: 01-internacional Asunto principal: Hidropesía Fetal / Trombospondinas / Cardiopatías Congénitas / Hemangioma / Mutación Tipo de estudio: Prognostic_studies Límite: Child, preschool / Female / Humans / Infant / Male Idioma: En Revista: Am J Med Genet A Asunto de la revista: GENETICA MEDICA Año: 2018 Tipo del documento: Article País de afiliación: Emiratos Árabes Unidos

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