Associated Papers
Progress and Current Status in Hajdu-Cheney Syndrome with Focus on Novel Genetic Research.
Aida N et al.
International Journal of Molecular Sciences, 2022
Sequential Defects in Cardiac Lineage Commitment and Maturation Cause Hypoplastic Left Heart Syndrome.
Krane M et al.
Circulation, 2021
34694888 (PubMed )
Supplement: cir-144-1409-s001.xlsx › 1B_WES_results_Munich_cohort
Hajdu-Cheney syndrome: phenotypical progression with de-novo NOTCH2 mutation.
Descartes M et al.
Clinical Dysmorphology, 2014
A mutation in NOTCH2 gene in a Chinese patient with Hajdu-Cheney syndrome.
Gu JM et al.
Joint Bone Spine, 2013
Truncating mutations in the last exon of NOTCH2 cause a rare skeletal disorder with osteoporosis.
Isidor B et al.
Nature Genetics, 2011
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