Bone marrow failure syndrome caused by homozygous frameshift mutation in the ERCC6L2 gene.

We report two cases of bone marrow failure with no extra-hematopoietic manifestations in patients from unrelated families with a homozygous truncating mutation in ERCC6L2. Bone marrow failure without developmental delay or microcephaly with ERCC6L2 mutation has not been previously described. PMID: 28815563 [PubMed - as supplied by publisher]

https://www.ncbi.nlm.nih.gov/pubmed/28815563?dopt=Abstract

Source: Clinical Genetics - August 16, 2017 Category: Genetics & Stem Cells Authors: Järviaho T, Halt K, Hirvikoski P, Moilanen J, Möttönen M, Niinimäki R Tags: Clin Genet Source Type: research

More News: Bone Marrow Failure Syndrome (BMFS) | Gastroschisis Repair | Genetics