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Paper Details

Complex Presentation of Hao-Fountain Syndrome Solved by Exome Sequencing Highlighting Co-Occurring Genomic Variants.
Genes (Basel)
6
2022
Hao-Fountain Syndrome, Hao-Fountain syndrome, ID, IVS8, IVS8-5T, autosomal dominant polycystic kidney disease, bronchiectasis, cholelithiasis, chronic constipation, colelithiasis, cystic fibrosis, dysmorphic features, haploinsufficiency, hypertrichosis, intellectual disability, modulator allele, multisystem disorder, patient, pneumonia, polycystic kidney disease, recurrent bronchitis, scoliosis, syndromic ID, upper and lower respiratory way infections, woman

Datasets

Release 1.2