Associated Papers
Mutation analysis of the WFS1 gene in a Chinese family with autosomal-dominant non-syndrome deafness.
Zhao J et al.
Scientific Reports, 2022
36564540 (PubMed )
Supplement: 41598_2022_26850_MOESM3_ESM.xlsx › RawData
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
Mutation analysis of the GSDME gene in a Chinese family with non-syndromic hearing loss.
Lei P et al.
Plos One, 2022
36350814 (PubMed )
Supplement: pone.0276233.s004.xlsx › RawData
[Mother and son with enlarged parietal foramina, persistent fetal vein, and ALX4 mutation].
Morita M et al.
No to Hattatsu = Brain and Development, 2016
OTX2 mutations contribute to the otocephaly-dysgnathia complex.
Chassaing N et al.
Journal of Medical Genetics, 2012
Enlarged parietal foramina caused by mutations in the homeobox genes ALX4 and MSX2: from genotype to phenotype.
Mavrogiannis LA et al.
European Journal of Human Genetics : Ejhg, 2006
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