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syndromic deafness相关文献:
Syndromic and non-syndromic deafness, molecular aspects of Pendred syndrome and its reported mutations.
Shaukat S, Fatima Z, Zehra U, Waqar AB.
J Ayub Med Coll Abbottabad. 2003 Jul-Sep;15(3):59-64.
PMID:14727345
Molecular genetics of non-syndromic deafness.
Piatto VB, Nascimento EC, Alexandrino F, Oliveira CA, Lopes AC, Sartorato EL, Maniglia JV.
Braz J Otorhinolaryngol. 2005 Mar-Apr;71(2):216-23. doi: 10.1016/s1808-8694(15)31313-6. Epub 2005 Aug 2.
PMID:16446920
Sex-linked deafness.
Petersen MB, Wang Q, Willems PJ.
Clin Genet. 2008 Jan;73(1):14-23. doi: 10.1111/j.1399-0004.2007.00913.x. Epub 2007 Nov 13.
PMID:18005182
Mitochondrial deafness.
Fischel-Ghodsian N.
Ear Hear. 2003 Aug;24(4):303-13. doi: 10.1097/01.AUD.0000079802.82344.B5.
PMID:12923421
[Syndromic hereditary deafness. Usher's syndrome. Oto-neurologic and genetic factors].
Espinós C, Pérez-Garrigues H, Beneyto M, Vilela C, Rodrigo O, Nájera C.
An Otorrinolaringol Ibero Am. 1999;26(1):83-95.
PMID:10091368
Syndromic hearing loss.
Dorbeau C, Bijou W, Bakhos D.
Eur Ann Otorhinolaryngol Head Neck Dis. 2021 Mar;138(2):118-119. doi: 10.1016/j.anorl.2020.08.008. Epub 2020 Sep 8.
PMID:32912813
[Genetics of congenital deafness].
Faundes V, Pardo RA, Castillo Taucher S.
Med Clin (Barc). 2012 Oct 20;139(10):446-51. doi: 10.1016/j.medcli.2012.02.014. Epub 2012 Apr 24.
PMID:22538062
[Hereditary hearing loss].
Tropitzsch A, Schade-Mann T, Gamerdinger P.
HNO. 2023 Feb;71(2):131-142. doi: 10.1007/s00106-022-01254-x. Epub 2022 Dec 16.
PMID:36526931
Keratitis-ichthyosis-deafness syndrome: A comprehensive review of cutaneous and systemic manifestations.
Alsabbagh MM.
Pediatr Dermatol. 2023 Jan;40(1):19-27. doi: 10.1111/pde.15201. Epub 2022 Nov 29.
PMID:36444857
The PDS gene, Pendred syndrome and non-syndromic deafness DFNB4.
Wilcox ER, Everett LA, Li XC, Lalwani AK, Green ED.
Adv Otorhinolaryngol. 2000;56:145-51. doi: 10.1159/000059088.
PMID:10868226
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