Bainbridge-ropers syndrome caused by loss-of-function variants in ASXL3: Clinical abnormalities, medical imaging features, and gene variation in infancy of case report
Abstract Background Bainbridge-Ropers syndrome (BRPS) is a recently described developmental disorder caused by de novo truncating mutations in the Additional sex combs-like 3 (ASXL3) gene. Only four cases have been reported in China and are limited to the analysis of its clinical abnormalities, medi...
Tallennettuna:
Päätekijät: | , , , , , , |
---|---|
Aineistotyyppi: | Kirja |
Julkaistu: |
BMC,
2020-06-01T00:00:00Z.
|
Aiheet: | |
Linkit: | Connect to this object online. |
Tagit: |
Lisää tagi
Ei tageja, Lisää ensimmäinen tagi!
|
Internet
Connect to this object online.3rd Floor Main Library
Hyllypaikka: |
A1234.567 |
---|---|
Nide 1 | Saatavissa |