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1992 | 1 |
2017 | 2 |
2018 | 2 |
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Homozygous EDNRB mutation in a patient with Waardenburg syndrome type 1.
Auris Nasus Larynx. 2018 Apr;45(2):222-226. doi: 10.1016/j.anl.2017.03.022. Epub 2017 May 11.
Auris Nasus Larynx. 2018.
PMID: 28502583
Molecular modeling of EDNRB and the p.R319W mutant was conducted to predict the pathogenicity of the mutation. RESULTS: The proband showed sensorineural hearing loss, heterochromia iridis, and dystopia canthorum, fulfilling the clinical criteria of WS1. ...
Molecular modeling of EDNRB and the p.R319W mutant was conducted to predict the pathogenicity of the mutation. RESULTS: The proband s …
A novel mutation of the EYA4 gene associated with post-lingual hearing loss in a proband is co-segregating with a novel PAX3 mutation in two congenitally deaf family members.
Cesca F, Bettella E, Polli R, Cama E, Scimemi P, Santarelli R, Murgia A.
Cesca F, et al.
Int J Pediatr Otorhinolaryngol. 2018 Jan;104:88-93. doi: 10.1016/j.ijporl.2017.10.042. Epub 2017 Oct 31.
Int J Pediatr Otorhinolaryngol. 2018.
PMID: 29287889
The use of NGS targeted gene-panel, in combination with an extensive clinical and audiological examination led us to identify the genetic cause of the hearing loss in members of a family in which different forms of autosomal dominant deafness segregate. These results provide prec …
The use of NGS targeted gene-panel, in combination with an extensive clinical and audiological examination led us to identify the genetic ca …
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A frameshift mutation in the HuP2 paired domain of the probable human homolog of murine Pax-3 is responsible for Waardenburg syndrome type 1 in an Indonesian family.
Morell R, Friedman TB, Moeljopawiro S, Hartono, Soewito, Asher JH Jr.
Morell R, et al.
Hum Mol Genet. 1992 Jul;1(4):243-7. doi: 10.1093/hmg/1.4.243.
Hum Mol Genet. 1992.
PMID: 1303193
The HuP2 product is a truncated protein lacking most of the paired domain and all of the predicted homeo domain. We propose that the WS1 phenotype in this family is due to loss of function of HuP2 and discuss two mechanisms for the dominant effect of this mutation....
The HuP2 product is a truncated protein lacking most of the paired domain and all of the predicted homeo domain. We propose that the …
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