The deletion ofSOX8is not associated with ATR-16 in an HbH family from Brazil
Author:
Publisher
Wiley
Subject
Hematology
Link
http://onlinelibrary.wiley.com/wol1/doi/10.1111/j.1365-2141.2008.07187.x/fullpdf
Reference10 articles.
1. Sequence, structure and pathology of the fully annotated terminal 2Mb of the short arm of human chromosome 16;Daniels;Human Molecular Genetics,2001
2. Nine unknown rearrangements in 16p13.3 and 11p15.4 causing alpha- and beta-thalassaemia characterised by high resolution multiplex ligation-dependent probe amplification;Harteveld;Journal of Medical Genetics,2005
3. Refinement of the genetic cause of ATR-16;Harteveld;Human Genetics,2007
4. Monosomy for the most telomeric, gene-rich region of the short arm of human chromosome 16 causes minimal phenotypic effects;Horsley;European Journal of Human Genetics,2001
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1. Noniron deficiency microcytic anemia, dysmorphic features, and intellectual disability: Diagnostic clues for α-thalassemia/mental retardation associated with chromosome 16 syndrome;Pediatrics & Neonatology;2022-05
2. ATR-16 syndrome: mechanisms linking monosomy to phenotype;Journal of Medical Genetics;2020-01-31
3. ATR16 Syndrome: Mechanisms Linking Monosomy to Phenotype;2019-10-07
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