Associated Papers
A Novel De Novo NFKBIA Missense Mutation Associated to Ectodermal Dysplasia with Dysgammaglobulinemia.
Chear CT et al.
Genes, 2022
36292785 (PubMed )
Supplement: genes-13-01900-s001.zip › genes-1944565-supplementary.pdf
Novel Loss-of-Function Mutations in NPR2 Cause Acromesomelic Dysplasia, Maroteaux Type.
Wu J et al.
Frontiers in Genetics, 2022
35368703 (PubMed )
Supplement: DataSheet1.zip › 823861_SupMaterial › Data_Sheet_1.ZIP › raw_datas › patient_2__NGS_raw_data.xlsx › Sheet1
Molecular mechanisms of Ellis‑van Creveld gene variations in ventricular septal defect.
Liu F et al.
Molecular Medicine Reports, 2018
Molecular and clinical analysis of Ellis-van Creveld syndrome in the United Arab Emirates.
Ali BR et al.
Bmc Medical Genetics, 2010
Mutations in the EVC1 gene are not a common finding in the Ellis-van Creveld and short rib-polydactyly type III syndromes.
Takamine Y et al.
American Journal of Medical Genetics. Part A, 2004
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