Oculocutaneous albinism in a patient with 17p13.2-pter duplication - a review on the molecular syndromology of 17p13 duplication.

Kucharczyk, Marzena; Jezela-Stanek, Aleksandra; Gieruszczak-Bialek, Dorota; Kugaudo, Monika; Cieslikowska, Agata; Pelc, Magdalena; Krajewska-Walasek, Malgorzata

Kucharczyk, Marzena; Jezela-Stanek, Aleksandra; Gieruszczak-Bialek, Dorota; Kugaudo, Monika; Cieslikowska, Agata; Pelc, Magdalena; Krajewska-Walasek, Malgorzata.

Afiliación

Kucharczyk M; Department of Medical Genetics, Children's Memorial Health Institute, Warsaw, Poland.
Jezela-Stanek A; Department of Medical Genetics, Children's Memorial Health Institute, Warsaw, Poland.
Gieruszczak-Bialek D; Department of Medical Genetics, Children's Memorial Health Institute, Warsaw, Poland.
Kugaudo M; Department of Pediatrics, Medical University of Warsaw, Warsaw, Poland.
Cieslikowska A; Department of Medical Genetics, Children's Memorial Health Institute, Warsaw, Poland.
Pelc M; Department of Child and Adolescent Psychiatry, Medical University of Warsaw, Warsaw, Poland.
Krajewska-Walasek M; Department of Medical Genetics, Children's Memorial Health Institute, Warsaw, Poland.

Biomed Pap Med Fac Univ Palacky Olomouc Czech Repub ; 159(2): 333-7, 2015 Jun.

Article en En | MEDLINE | ID: mdl-25690523

Asunto(s)

Albinismo Oculocutáneo/genética; Duplicación Cromosómica/genética; Cromosomas Humanos Par 19/genética; Preescolar; Femenino; Humanos; Hibridación Fluorescente in Situ

Palabras clave

17p13.3; albinism; chromosomal duplication

Texto completo

Imprimir

XML

PubMed Links

Buscar en Google

Texto completo: 1 Bases de datos: MEDLINE Asunto principal: Cromosomas Humanos Par 19 / Albinismo Oculocutáneo / Duplicación Cromosómica Límite: Child, preschool / Female / Humans Idioma: En Revista: Biomed Pap Med Fac Univ Palacky Olomouc Czech Repub Asunto de la revista: MEDICINA Año: 2015 Tipo del documento: Article País de afiliación: Polonia

Texto completo

Imprimir

XML

PubMed Links

Buscar en Google