Variable Clinical Presentation of Shwachman-Diamond Syndrome: Update From the North-American Shwachman-Diamond Syndrome Registry

OBJECTIVES: To investigate the range of clinical presentations for Shwachman-Diamond syndrome (SDS) with the long-term goal of improving diagnosis. STUDY DESIGN: We reviewed the North American Shwachman-Diamond Syndrome Registry. Genetic reports of biallelic SBDS mutations confirming the diagnosis o...

Cijeli opis

Spremljeno u:
Bibliografski detalji
Glavni autori: Myers, Kasiani C., Bolyard, Audrey Anna, Otto, Barbara, Wong, Trisha E., Jones, Amanda, Harris, Richard E., Davies, Stella M., Dale, David C., Shimamura, Akiko
Format: Artigo
Jezik:Inglês
Izdano: 2013
Teme:
Article
Online pristup:https://ncbi.nlm.nih.gov/pmc/articles/PMC4077327/
https://ncbi.nlm.nih.gov/pubmed/24388329
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.jpeds.2013.11.039
Oznake: Dodaj oznaku
Bez oznaka, Budi prvi tko označuje ovaj zapis!

Similar Items