All individuals with variants in gene KRT4

8 entries on 1 page. Showing entries 1 - 8.
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00290755 - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - - - - ? - 1 3 Mohammed Faruq
00392909 family PubMed: Terrinoni 2000 2-generation family, affected mother/daughter/son F;M - Italy - - - - - WSN1 see paper; ..., white asymptomatic oral plaques 1 3 Johan den Dunnen
00392916 family PubMed: Chao 2003 2-generation family, affected father/son M - Taiwan - - - - - WSN1 see paper; ..., diffuse irregular whitish plaques involving buccal and gingival mucosae and tongue, affected mucosa showed epithelial thickening, parakeratosis and extensive vacuolization suprabasal keratinocytes 1 2 Johan den Dunnen
00392917 Fam1 PubMed: Rugg 1995 2-generation family, 4 affected (3F, M), F;M - Scotland - - - - - WSN1 see paper; ... 1 4 Johan den Dunnen
00392918 Fam2 PubMed: Rugg 1995 2-generation family, affected father, twin daughters and son (2F, 2M) F;M - Scotland - - - - - WSN1 see paper; ... 1 4 Johan den Dunnen
00393053 FamPatII1 PubMed: Zhang 2009 3-generation family, 4 affected (4F) F - China - - - - - WSN1 see paper; ..., asymptomatic oral plaques 2 4 Johan den Dunnen
00401208 family PubMed: Naqvi 2022 5-generation family, 7 affected (4F, 3M), unaffected heterozygous carrier parents/relatives F;M yes Pakistan - - - - - MCPH see paper; ..., small heads, mild-moderate intellectual disability, short stature, narrow and oval shaped faces, receding foreheads, large ears, prominent nose; attention deficit behavior, speech apraxia; never attended school; affected males spend time wandering streets, no concept of money, not able to perform any conceptual work, recognize relatives, find their way home, sense of self-respect, comfortable with strangers and are friendly 1 1 Johan den Dunnen
00443881 FamFPatIV1 PubMed: Chatron 2020 3-generation family, 1 affected brother, unaffected heterozygous parents/relatives F yes Brazil - - - - - DEE see paper; ..., 7d-myoclonic seizure; tonic seizures, epileptic spasms, focal seizures; EEG at onset suppression-burst pattern; occasional seizure; dystonia and hyperkinetic movements; profound intellectual disability; no pes equinovarus; no omphalocele; no cleft palate; joint contractures; no dysmorphic facial features; MRI brain 4m-normal, 13m-mild cerebral atrophy, 6y-mild cerebral atrophy with ventricular dilation 1 1 Johan den Dunnen
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