All individuals with variants in gene FGF3

28 entries on 1 page. Showing entries 1 - 28.
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00264074 FamA PubMed: Tekin 2007, PubMed: Tekin 2008 5-generation family, 5 affected (F, 4M), unaffected heterozygous carrier parents/relatives F;M yes Turkey - - - - - deafness see paper; …, congenital deafness, inner ear agenesis, microtia, microdontia 1 5 Johan den Dunnen
00264075 FamB PubMed: Tekin 2007, PubMed: Tekin 2008 4-generation family, 3 affected (3M), unaffected heterozygous carrier parents/relatives F yes Turkey - - - - - deafness see paper; …, congenital deafness, inner ear agenesis, microtia, microdontia 1 3 Johan den Dunnen
00264076 FamC PubMed: Tekin 2007, PubMed: Tekin 2008 2-generation family, 1 affected, unaffected heterozygous carrier mother/sib F - Turkey - - - - - deafness see paper; …, congenital deafness, inner ear agenesis, microtia, microdontia 1 1 Johan den Dunnen
00264077 Fam1 PubMed: Tekin 2008 2-generation family, 2 affected (F, M), unaffected heterozygous carrier parents F - Turkey - - - - - deafness see paper; …, height 10th–25th centile, type I microtia, anteverted ears 1 1 Johan den Dunnen
00264078 Fam2PatIV1/2/3 PubMed: Tekin 2008 2-generation family, 3 affected (F, 2M), unaffected heterozygous carrier parents F;M - Germany Turkey - - - - deafness see paper; …, type I microtia, anteverted ears, single large skin tag at upper helix, microdontia 1 3 Johan den Dunnen
00264079 Fam PubMed: Alsmadi 2009 6-generation family, 21 affected (11F, 10M), unaffected heterozygous carrier parents/relatives F;M yes Saudi Arabia - - - - - deafness see paper; …, syndromic congenital sensorineural deafness, microtia, microdontia 1 21 Johan den Dunnen
00264080 FamA PubMed: Sensi 2011 2-generation family, 2 affected sibs (F, M), unaffected heterozygous carrier parents F;M no Italy Albania - - - - deafness see paper; …, microtia, microdontia, sensori-neural hearing loss 2 2 Johan den Dunnen
00264081 FamB PubMed: Sensi 2011 2-generation family, 1 affected (F), unaffected heterozygous carrier parents F no Italy - - - - - deafness see paper; …, profound bilateral deafness 2 1 Johan den Dunnen
00264082 Fam PubMed: Ramsebner 2009 3-generation family, 4 affected (3F, M), unaffected heterozygous carrier parents F;M - Somalia - - - - - deafness see paper; …, differential inner ear malformation, microtia, microdontia 1 4 Johan den Dunnen
00264083 FamPat1 PubMed: Dill 2011 2-generation family, 1 affected (M), unaffected heterozygous carrier parents M yes Turkey - - - - - deafness see paper; …, pyridoxal phosphate-responsive seizures, cerebral folate deficiency, congenital deafness, labyrinthine aplasia, microtia, microdontia 1 1 Johan den Dunnen
00264084 FamPKDF295 PubMed: Riazuddin 2011 4-generation family, 4 affected (F, 3M), unaffected heterozygous carrier parents F;M yes Pakistan - - - - - deafness see paper; … 1 4 Johan den Dunnen
00264085 FamPKDF817 PubMed: Riazuddin 2011 5-generation family, 8 affected (3F,5 M), unaffected heterozygous carrier parents F;M yes Pakistan - - - - - deafness see paper; … 1 8 Johan den Dunnen
00264086 FamPKDF887 PubMed: Riazuddin 2011 4-generation family, 3 affected (F, 2M), unaffected heterozygous carrier parents F;M yes Pakistan - - - - - deafness see paper; … 1 3 Johan den Dunnen
00284250 - PubMed: Tekin 2007, PubMed: Ordonez 1993 - - - - - - - - - deafness - 1 1 Global Variome, with Curator vacancy
00284251 - PubMed: Tekin 2007, PubMed: Ordonez 1993 - - - - - - - - - deafness - 1 1 Global Variome, with Curator vacancy
00284252 - PubMed: Ordonez 1993, PubMed: Sensi 2011 - - - - - - - - - ? - 1 1 Global Variome, with Curator vacancy
00284253 - PubMed: Ordonez 1993, PubMed: Riazuddin 2011 - - - - - - - - - ? - 1 1 Global Variome, with Curator vacancy
00284254 - PubMed: Ordonez 1993, PubMed: Sensi 2011 - - - - - - - - - ? - 1 1 Global Variome, with Curator vacancy
00284255 - PubMed: Tekin 2007, PubMed: Ordonez 1993, PubMed: Sensi 2011, PubMed: Riazuddin 2011 - - - - - - - - - deafness - 1 1 Global Variome, with Curator vacancy
00284256 - PubMed: Ordonez 1993, PubMed: Ramsebner 2010 - - - - - - - - - deafness - 1 1 Global Variome, with Curator vacancy
00284257 - PubMed: Ordonez 1993, PubMed: Tekin 2008 - - - - - - - - - ? - 1 1 Global Variome, with Curator vacancy
00284258 - PubMed: Ordonez 1993, PubMed: Alsmadi 2009 - - - - - - - - - deafness - 1 1 Global Variome, with Curator vacancy
00284259 - PubMed: Ordonez 1993, PubMed: Dill 2011 - - - - - - - - - ? - 1 1 Global Variome, with Curator vacancy
00284260 - PubMed: Ordonez 1993, PubMed: Sensi 2011 - - - - - - - - - ? - 1 1 Global Variome, with Curator vacancy
00284261 - PubMed: Ordonez 1993, PubMed: Tekin 2008 - - - - - - - - - ? - 1 1 Global Variome, with Curator vacancy
00290523 - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - - - - ? - 1 1 Mohammed Faruq
00307903 - PubMed: Doll 2020 two distantly related families with parental consanguinity, segregating in six affected individuals - yes Pakistan - - - - - deafness Cupped ears, irregularly spaced teeth, and severe hearing loss 1 6 Barbara Vona
00385920 V2.03 PubMed: Prasad 2016 - M - - - - - - - ? otodental syndrome 1 1 Johan den Dunnen
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