A carregar...

Whole-exome sequencing enables correct diagnosis and surgical management of rare inherited childhood anemia

Correct diagnosis of inherited bone marrow failure syndromes is a challenge because of the significant overlap in clinical presentation of these disorders. Establishing right genetic diagnosis is crucial for patients’ optimal clinical management and family counseling. A nondysmorphic infant reported...

ver descrição completa

Na minha lista:
Detalhes bibliográficos
Publicado no:Cold Spring Harb Mol Case Stud
Main Authors: Khurana, Monica, Edwards, Donna, Rescorla, Frederic, Miller, Caroline, He, Ying, Sierra Potchanant, Elizabeth, Nalepa, Grzegorz
Formato: Artigo
Idioma:Inglês
Publicado em: Cold Spring Harbor Laboratory Press 2018
Assuntos:
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC6169821/
https://ncbi.nlm.nih.gov/pubmed/30275003
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1101/mcs.a003152
Tags: Adicionar Tag
Sem tags, seja o primeiro a adicionar uma tag!