A 300-kb microduplication of 7q36.3 in a patient with triphalangeal thumb-polysyndactyly syndrome combined with congenital heart disease and optic disc coloboma: a case report.

Zlotina, Anna; Melnik, Olesia; Fomicheva, Yulia; Skitchenko, Rostislav; Sergushichev, Alexey; Shagimardanova, Elena; Gusev, Oleg; Gazizova, Guzel; Loevets, Tatiana; Vershinina, Tatiana; Kozyrev, Ivan; Gordeev, Mikhail; Vasichkina, Elena; Pervunina, Tatiana; Kostareva, Anna

Zlotina, Anna; Melnik, Olesia; Fomicheva, Yulia; Skitchenko, Rostislav; Sergushichev, Alexey; Shagimardanova, Elena; Gusev, Oleg; Gazizova, Guzel; Loevets, Tatiana; Vershinina, Tatiana; Kozyrev, Ivan; Gordeev, Mikhail; Vasichkina, Elena; Pervunina, Tatiana; Kostareva, Anna.

Afiliación

Zlotina A; Almazov National Medical Research Centre, 2, Akkuratova Street, Saint Petersburg, Russia, 197341. anna-zlotina@yandex.ru.
Melnik O; Almazov National Medical Research Centre, 2, Akkuratova Street, Saint Petersburg, Russia, 197341.
Fomicheva Y; Almazov National Medical Research Centre, 2, Akkuratova Street, Saint Petersburg, Russia, 197341.
Skitchenko R; Computer Technologies Laboratory, ITMO University, Saint Petersburg, Russia.
Sergushichev A; Computer Technologies Laboratory, ITMO University, Saint Petersburg, Russia.
Shagimardanova E; Institute of Fundamental Medicine and Biology, Kazan Federal University, Kazan, Russia, 420008.
Gusev O; Institute of Fundamental Medicine and Biology, Kazan Federal University, Kazan, Russia, 420008.
Gazizova G; RIKEN Cluster for Science, Technology and Innovation Hub, RIKEN, Yokohama, 230-0045, Japan.
Loevets T; Institute of Fundamental Medicine and Biology, Kazan Federal University, Kazan, Russia, 420008.
Vershinina T; Almazov National Medical Research Centre, 2, Akkuratova Street, Saint Petersburg, Russia, 197341.
Kozyrev I; Almazov National Medical Research Centre, 2, Akkuratova Street, Saint Petersburg, Russia, 197341.
Gordeev M; Almazov National Medical Research Centre, 2, Akkuratova Street, Saint Petersburg, Russia, 197341.
Vasichkina E; Almazov National Medical Research Centre, 2, Akkuratova Street, Saint Petersburg, Russia, 197341.
Pervunina T; Almazov National Medical Research Centre, 2, Akkuratova Street, Saint Petersburg, Russia, 197341.
Kostareva A; Almazov National Medical Research Centre, 2, Akkuratova Street, Saint Petersburg, Russia, 197341.

BMC Med Genomics ; 13(1): 175, 2020 11 20.

Article en En | MEDLINE | ID: mdl-33218365

Asunto(s)

Anomalías Múltiples/genética; Cromosomas Humanos Par 7/genética; Coloboma/genética; Anomalías Congénitas/genética; Ventrículo Derecho con Doble Salida/genética; Duplicación de Gen; Disostosis Mandibulofacial/genética; Microftalmía/genética; Disco Óptico/anomalías; Adulto; Cromosomas Humanos Par 7/ultraestructura; Hibridación Genómica Comparativa; Femenino; Humanos; Lactante; Masculino; Proteínas de la Membrana/genética; Linaje; Fenotipo; Polimorfismo de Nucleótido Simple; Síndrome; Arterias Umbilicales/anomalías

Palabras clave

7q36 duplication; DORV; LMBR1; Long-range sonic hedgehog (SHH) regulator (ZRS); Microphthalmia with coloboma; Triphalangeal thumb-polysyndactyly syndrome

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Texto completo: 1 Colección: 01-internacional Banco de datos: MEDLINE Asunto principal: Disco Óptico / Anomalías Congénitas / Anomalías Múltiples / Cromosomas Humanos Par 7 / Ventrículo Derecho con Doble Salida / Coloboma / Microftalmía / Duplicación de Gen / Disostosis Mandibulofacial Tipo de estudio: Clinical_trials Límite: Adult / Female / Humans / Infant / Male Idioma: En Revista: BMC Med Genomics Asunto de la revista: GENETICA MEDICA Año: 2020 Tipo del documento: Article

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