All individuals with variants in gene MAF

11 entries on 1 page. Showing entries 1 - 11.
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00065070 - PubMed: Jamieson 2002 - - - - - - - - - CTRCT Congenital cataract, iris coloboma, microcornea 1 5 Deepti Anand
00065071 - PubMed: Vanita 2006 - - - India - - - - - CTRCT Cerulean cataract, microcornea 1 12 Deepti Anand
00065072 - PubMed: Hansen 2007 4 affected individuals from a family - - - - - - - - CTRCT Congenital cataract, microcornea 3 4 Deepti Anand
00065073 - PubMed: Hansen 2009 4 affected individuals from a family - - - - - - - - CTRCT Congenital cataract, microcornea 1 4 Deepti Anand
00065074 - PubMed: Narumi 2014 - - - Japan - - - - - CTRCT Congenital cataract, iris coloboma, microcornea 1 6 Deepti Anand
00065075 - PubMed: Sun 2014 - - - China - - - - - CTRCT Congenital cataract, Nystagmus 1 7 Deepti Anand
00065076 - PubMed: Niceta 2015 - - - - - - - - - ? - 8 1 Deepti Anand
00183351 28849415-FamPatI1/III3 PubMed: Dudakova 2017 3-generation family, 4 affected (2F, 2M), paternal grandmother and son III3, father (II4) not available F;M no Czech Republic - - 0 - - CTRCT PatI1 (65y) bilateral catarat 16y, best corrected visual acuity R 0.33/L ?, iris coloboma R, no microcornea;55y-left enucleated for secondary glaucoma PatIII3 (17y) bilateral nuclear cataract, best corrected visual acuity R 0.1/L 0.25, iris no coloboma, no microcornea, horizontal nystagmus (L+R) 1 4 Johan den Dunnen
00183353 28849415-FamPatIII1 PubMed: Dudakova 2017 - F - Czech Republic - - 0 - - CTRCT 9m-cataract (R+L), no light perception, no iris coloboma, microcornea (L+R), horizontal and rotatory nystagmus (L+R), accurate corneal diameter measurements could not be obtained 1 1 Johan den Dunnen
00336007 - PubMed: Sergouniotis 2016 analysis 181 cases - - United Kingdom (Great Britain) - - 0 - - CTRCT - 1 1 LOVD
00382147 96 PubMed: Patel 2019 - ? - United Kingdom (Great Britain) - - 0 - - CTCRT-21;CCA-4 congenital cataract; MIM, 610202 1 1 LOVD
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