Associated Papers
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
Novel missense mutation in the bZIP transcription factor, MAF, associated with congenital cataract, developmental delay, seizures and hearing loss (Aymé-Gripp syndrome).
Javadiyan S et al.
Bmc Medical Genetics, 2017
28482824 (PubMed )
Supplement: 12881_2017_414_MOESM2_ESM.xlsx › Exonic_variants
Whole-exome sequencing in patients with ichthyosis reveals modifiers associated with increased IgE levels and allergic sensitizations.
Kiritsi D et al.
The Journal of Allergy and Clinical Immunology, 2015
Mutations in the NSDHL gene, encoding a 3beta-hydroxysteroid dehydrogenase, cause CHILD syndrome.
König A et al.
American Journal of Medical Genetics, 2000
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