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Abstract The spectrum of congenital malformations in VACTERL association varies among patients and can be differentially diagnosed with CHARGE syndrome, Fanconi anaemia, and others (reviewed in Solomon 2011). Despite overlapping clinical findings, the genetic causes of these diseases are distinct. In this context, unbiased whole genome sequencing can assist in differential diagnoses, as well as identify new gene-disease associations.
ReportOnline now100478Open access 1Victor Chang Cardiac Research Institute, Darlinghurst, NSW 2010, Australia 2University of New South Wales, Kensington, NSW 2033, Australia 3School of Chemistry and Molecular Biosciences, University of Queensland, St Lucia, QLD 4067, Australia 4Systems and Computational Biology, Bio21 Institute, University of Melbourne, Parkville, VIC 3025, Australia 5Heart Centre for Children, Sydney Children's Hospital Network, Westmead, NSW 2145, Australia 6Faculty of...
eLife Assessment NAD deficiency perturbs embryonic development resulting in multiple congenital malformations, collectively termed Congenital NAD Deficiency Disorder (CNDD). The authors report fundamental findings demonstrating that extra-embryonic visceral yolk sac endoderm is critical for NAD de novo synthesis during early organogenesis and perturbations of this pathway may underlie CNDD.
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