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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...

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Detalles Bibliográficos
Autores principales:	Khurana, Monica, Edwards, Donna, Rescorla, Frederic, Miller, Caroline, He, Ying, Sierra Potchanant, Elizabeth, Nalepa, Grzegorz
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	Cold Spring Harbor Laboratory Press 2018
Materias:	Research Report
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6169821/ https://www.ncbi.nlm.nih.gov/pubmed/30275003 http://dx.doi.org/10.1101/mcs.a003152

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