Associated Papers
Analysis of exome data in a UK cohort of 603 patients with syndromic orofacial clefting identifies causal molecular pathways.
Wilson K et al.
Human Molecular Genetics, 2023
37010288 (PubMed )
Supplement: supptables_hmg-2022-ce-00520-r1_wilson_without_id_ddad023.xlsx › S4
Hajdu Cheney Syndrome due to NOTCH2 defect - First case report from Pakistan and review of literature.
Ahmed S et al.
Annals of Medicine and Surgery (2012), 2021
Bone Structural Characteristics and Response to Bisphosphonate Treatment in Children With Hajdu-Cheney Syndrome.
Sakka S et al.
The Journal of Clinical Endocrinology and Metabolism, 2017
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