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Paper Details

Genetic Heterogeneity and Core Clinical Features of NOG-Related-Symphalangism Spectrum Disorder.
Otol Neurotol
0
2021
555kb chromosomal deletion, ANKFN1, NOG, NOG point mutation, NOG-, NOG-Related-Symphalangism Spectrum Disorder, NOG-SSD, SSD, chromosomal 17q22, chromosomal 17q22 microdeletion syndromes, chromosome 17q22, chromosome 17q22 microdeletions, conductive hearing loss, facial dysmorphisms, noggin protein, otosclerosis, patient, patients, skeletal and joint anomalies, stapes, stapes ankylosis
Author NameAffiliation
Kathleen A LeppigKaiser Permanente of Washington
Mary-Claire KingUniversity of Washington
Mary-Claire KingUniversity of Washington
Tom WalshUniversity of Washington
Tom WalshUniversity of Washington
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Release 1.2