P2293
Dystonia, mental deterioration, and dyschromatosis symmetrica hereditaria in a family with ADAR1 mutation[A case of idiopathic brain calcification associated with dyschromatosis symmetrica hereditaria, aplasia of dental root, and aortic valve sclerosis]Dyschromatosis symmetrica hereditaria of late onset?Dyschromatosis symmetrica hereditaria (reticulate acropigmentation of Dohi): report of a Japanese family with the condition and a literature review of 185 cases.Dyschromatosis symmetrica hereditaria with cutaneous lupus erythematosus and hyperthyroidism.A gene locus responsible for dyschromatosis symmetrica hereditaria (DSH) maps to chromosome 6q24.2-q25.2.Mutations of the RNA-specific adenosine deaminase gene (DSRAD) are involved in dyschromatosis symmetrica hereditaria.Five novel mutations in the ADAR1 gene associated with dyschromatosis symmetrica hereditaria.Refined localization of dyschromatosis symmetrica hereditaria gene to a 9.4-cM region at 1q21-22 and a literature review of 136 cases reported in China.Genetic spectrum of dyschromatosis symmetrica hereditaria in Chinese patients including a novel nonstop mutation in ADAR1 geneTwo frameshift mutations of the double-stranded RNA-specific adenosine deaminase gene in Chinese pedigrees with dyschromatosis symmetrica hereditaria.Hyper- and hypopigmented macules over palms and soles since birth--a case of dyschromatosis symmetrica hereditaria.Mutational spectrum of the ADAR1 gene in dyschromatosis symmetrica hereditaria.Dyschromatosis symmetrica hereditaria.Two novel splice site mutations of the ADAR1 gene in Chinese families with dyschromatosis symmetrica hereditaria.Identification of a novel mutation in the DSRAD gene in a Chinese family with dyschromatosis symmetrica hereditaria.Mutation analyses of patients with dyschromatosis symmetrica hereditaria: five novel mutations of the ADAR1 gene.Four novel and two recurrent mutations of the ADAR1 gene in Chinese patients with dyschromatosis symmetrica hereditaria.Two new mutations of the ADAR1 gene associated with dyschromatosis symmetrica hereditaria.A missense mutation c.G2747A (p.R916Q) of ADAR1 gene in dyschromatosis symmetrica hereditaria is not a novel mutation.Identification of two novel DSRAD mutations in two Chinese families with dyschromatosis symmetrica hereditaria.A novel insertion mutation in the ADAR1 gene of a Chinese family with dyschromatosis symmetrica hereditaria.Two novel mutations in the DSRAD gene in two Chinese pedigrees with dyschromatosis symmetrica hereditaria.Dyschromatosis symmetrica hereditaria by ADAR1 mutations and viral encephalitis: a hidden link?Novel mutations of the RNA-specific adenosine deaminase gene (DSRAD) in Chinese families with dyschromatosis symmetrica hereditaria.Seven novel mutations of the ADAR gene in Chinese families and sporadic patients with dyschromatosis symmetrica hereditaria (DSH).A novel mutation of the DSRAD gene in a Chinese family with dyschromatosis symmetrica hereditaria.Mutations in the ADAR1 gene in Chinese families with dyschromatosis symmetrica hereditaria.[DSRAD gene mutations in three families with dyschromatosis symmetrica hereditaria].A new arginine substitution mutation of DSRAD gene in a Chinese family with dyschromatosis symmetrica hereditaria.Two frameshift mutations in the RNA-specific adenosine deaminase gene associated with dyschromatosis symmetrica hereditaria.What is the novel clinical finding in dyschromatosis symmetrica hereditaria?Novel ADAR1 mutations including a single amino acid deletion in the deaminase domain underlie dyschromatosis symmetrica hereditaria in Japanese families.A novel missense mutation of the DSRAD gene in a Chinese family with dyschromatosis symmetrica hereditaria.Dyschromatosis symmetrica hereditaria associated with neurological disorders.Four novel mutations of the ADAR1 gene in dyschromatosis symmetrica hereditaria.Six novel mutations of the ADAR1 gene in patients with dyschromatosis symmetrica hereditaria: histological observation and comparison of genotypes and clinical phenotypes.Identification of a novel mutation in the DSRAD gene in a Chinese pedigree with dyschromatosis symmetrica hereditaria.Identification of a novel DSRAD gene mutation in a Chinese family with dyschromatosis symmetrica hereditaria.The double-RNA-specific adenosine deaminase (DSRAD) gene in dyschromatosis symmetrica hereditaria patients: two novel mutations and one previously described.
P921
Q54828674-E4527DF6-9643-42EE-8B5A-E08FCEFC22E4Q54828675-FC4109E2-D118-4A7E-9BB8-A95FC04C8F7DQ54828676-6A87BFAB-8501-4284-AA51-914AA8A9C7D8Q54828677-2A53859A-F571-4F8B-AAF9-C22F9D3A53B6Q54831451-33762E1C-876E-450E-BE4F-561B7CF08615Q54831452-6683A0D5-2DD5-44DC-BA4C-7F9F48D177EDQ54831453-3ACBB776-231B-4A93-BA0D-ACC4B94C6CAFQ54831454-93DDC7EE-6555-4280-8D4A-B9A8AEB3F72A
P5166
Q28249980-C7C275A2-E42F-48EB-83F6-3A6198263546Q30668657-AE0906B7-CA5F-4317-A0C5-9BC1E8582710Q33552271-F4AF7A3F-BA37-4279-B219-C08407D8B747Q33610802-FB31956A-FE5B-4118-BE61-1ED8C3625180Q33650296-340E209D-AD35-4630-8D72-BED0425524D3Q33905215-08B6C565-921C-4F7A-83E3-885D8ABBC775Q33906416-62F3AD81-4764-4546-B2EE-F71416727BEDQ33927121-FD564DD2-3AA2-4C8B-A7AA-8EC19C04F9FAQ35751746-C06CE71A-5289-48D8-A0D8-7B4270748412Q35927816-AC04421E-8451-4261-930C-472E3F0785EBQ36553834-AB600F4B-ADE3-4BE2-9840-C67E9E4FAB2BQ37642098-529D0CDB-88FB-41C7-BFF3-819096A43A4DQ37698988-FC151B82-3254-4E21-ACAB-A41BE0729E62Q38043012-D9F64900-9E5A-4D9D-88C6-2262F0078113Q42806660-82822DDE-E58A-492E-ACDC-F99E3B9001D6Q42937839-F1E50C3F-0583-4014-A1CC-158B039EAAEFQ43075625-79497FEE-9012-4432-BE56-98688D593ED5Q43079587-D866684A-7DE5-4D6F-84D0-5B9680ABE6BBQ43124149-5781A5A8-E8C8-4EBC-B4D0-3E0D9A724DBDQ43156855-B2E4CC40-BC8A-4DC2-A91C-B62037A2324AQ43196004-FB9676A3-E020-4213-8C63-499E452D5DE5Q43839755-DC13745E-78DB-4CD5-B095-3B9A2E3C4F23Q43920915-B783F252-21AC-4E56-9005-F400C7FD7F1DQ44298299-81BC3956-2378-40BC-9708-13AFFE7F2E87Q44854463-D1F27EFD-B889-41ED-A536-4A06635CC667Q44898248-7D899AFA-AB8C-4ECE-B4C6-2CDB3AE63E9CQ45043898-809F21A5-235C-4149-9FC2-24529265BC25Q45072188-8E690AC0-041F-4B8F-B6A3-DD1B5D11E237Q45111108-4F2478E3-3AC8-4F36-816A-86F9A9EF9EE2Q45230433-CB3AE50A-13A0-4BDD-9BAE-3848D66C34EAQ45277182-0F31F462-F018-4008-8676-45C847D1418AQ45721643-C38AC010-A339-44A7-8C51-DE2420B9A6E9Q45743755-1CC2A9A1-3278-473E-9A0A-D627D3F15E09Q46104775-7E302324-D8D5-4123-AF5B-16CB0F4B30A4Q46239956-6BB5DAB4-7275-4343-AA42-0752C9F24FD9Q46361659-9477B0F5-E03B-47C3-8DCE-E57896E1F6EAQ46427635-E88C882D-2F1F-41F7-B47E-B538674343ECQ46448478-54085580-4640-4EE9-A28A-2FE7A0BDECACQ46483607-AB4BE312-B693-49D2-9796-584934F36788Q46640043-405D711E-EB5E-46B1-97FD-195D12D50E79
P921
description
Krankheit
@de
pigmentation disease character ...... ated on the dorsal extremities
@en
sindrome a trasmissione autoso ...... e ipopigmentate alle estremità
@it
name
discromatosi simmetrica ereditaria
@it
dyschromatose symétrique héréditaire
@fr
dyschromatosis symmetrica hereditaria
@en
遺伝性対側性色素異常症
@ja
type
label
discromatosi simmetrica ereditaria
@it
dyschromatose symétrique héréditaire
@fr
dyschromatosis symmetrica hereditaria
@en
遺伝性対側性色素異常症
@ja
altLabel
Acropigmentation of Dohi
@en
DSH
@en
DSH1
@en
DYSCHROMATOSIS SYMMETRICA HEREDITARIA
@en
DYSCHROMATOSIS SYMMETRICA HEREDITARIA; DSH
@en
Dyschromatosis Symmetrica Hereditaria 1
@en
RAD
@en
Symmetric Dyschromatosis of the Extremities
@en
acropigmentation réticulée de Dohi
@fr
acropigmentazione reticolata di Dohi
@it
prefLabel
discromatosi simmetrica ereditaria
@it
dyschromatose symétrique héréditaire
@fr
dyschromatosis symmetrica hereditaria
@en
遺伝性対側性色素異常症
@ja
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MONDO:0007483
P6366
2778457590
P699
DOID:0060257