Associated Papers
Whole exome sequencing reveals an FCGBP variant associated with spontaneous intraabdominal hemorrhage in severe acute pancreatitis.
Tang QY et al.
Imetaomics, 2025
41675706 (PubMed )
Supplement: IMO2-2-e52-s002.xlsx › 2D
Compound heterozygous WNT10A missense variations exacerbated the tooth agenesis caused by hypohidrotic ectodermal dysplasia.
Liu Y et al.
Bmc Oral Health, 2024
38280992 (PubMed )
Supplement: 12903_2024_3888_MOESM2_ESM.xls › Supplementary_Table_1
A novel Hoxd13 mutation causes synpolydactyly and promotes osteoclast differentiation by regulating pSmad5/p65/c-Fos/Rank axis.
Zhang L et al.
Cell Death & Disease, 2023
Whole-exome sequencing identified mutational profiles of urothelial carcinoma post kidney transplantation.
Lim LM et al.
Journal of Translational Medicine, 2022
Genetic determinants of syndactyly: perspectives on pathogenesis and diagnosis.
Cassim A et al.
Orphanet Journal of Rare Diseases, 2022
A Novel Missense Variant of HOXD13 Caused Atypical Synpolydactyly by Impairing the Downstream Gene Expression and Literature Review for Genotype-Phenotype Correlations.
Guo R et al.
Frontiers in Genetics, 2021
A Review of the Phenotype of Synpolydactyly Type 1 in Homozygous Patients: Defining the Relatively Long and Medially Deviated Big Toe with/without Cupping of the Forefoot as a Pathognomonic Feature in the Phenotype.
Al-Qattan MM
Biomed Research International, 2020
Clinical and Genetic Analysis of CHD7 Expands the Genotype and Phenotype of CHARGE Syndrome.
Qin Z et al.
Frontiers in Genetics, 2020
32625235 (PubMed )
Supplement: Data_Sheet_1.zip › Supplementary_Table_2.XLSX › patient_5
The GenomeAsia 100K Project enables genetic discoveries across Asia.
Unknown Author
Nature, 2019
31802016 (PubMed )
Supplement: 41586_2019_1793_MOESM3_ESM.xlsx › S4b_-_Disease_Var
Identification of gene variants in 130 Han Chinese patients with hypospadias by targeted next-generation sequencing.
Zhang W et al.
Molecular Genetics & Genomic Medicine, 2019
Pathogenic gene screening in 91 Chinese patients with short stature of unknown etiology with a targeted next-generation sequencing panel.
Yang L et al.
Bmc Medical Genetics, 2018
Joining the fingers: a HOXD13 Story.
Brison N et al.
Developmental Dynamics : an Official Publication of the American Association of Anatomists, 2014
Mutations in the homeodomain of HOXD13 cause syndactyly type 1-c in two Chinese families.
Dai L et al.
Plos One, 2014
A systematic review of genetic skeletal disorders reported in Chinese biomedical journals between 1978 and 2012.
Cui Y et al.
Orphanet Journal of Rare Diseases, 2012
An N-terminal G11A mutation in HOXD13 causes synpolydactyly and interferes with Gli3R function during limb pre-patterning.
Brison N et al.
Human Molecular Genetics, 2012
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