Linkage of blepharophimosis syndrome in a large Indian pedigree to chromosome 7p
about
Mutations in FOXL2 underlying BPES (types 1 and 2) in Colombian familiesA novel case of unilateral blepharophimosis syndrome and mental retardation associated with de novo trisomy for chromosome 3qSingle stage surgery for Blepharophimosis syndrome.Novel occurrence of axenfeld: Rieger syndrome in a patient with blepharophimosis ptosis epicanthus inversus syndrome.Severe Developmental Delay in a Patient with 7p21.1-p14.3 Microdeletion Spanning the TWIST Gene and the HOXA Gene Cluster.Double jeopardy: Blepharophimosis syndrome with congenital nasolacrimal duct obstruction in twins.Blepharophimosis, minor facial anomalies, genital anomalies, and mental retardation: report of two sibs with a unique syndrome.Genetic analysis of patients with the Saethre-Chotzen phenotype.Saethre-Chotzen syndrome: notable intrafamilial phenotypic variability in a large family with Q28X TWIST mutation
P2860
Q28210862-35436D23-7C63-4F17-88F2-96A83704FBCFQ33679452-A18BAC9F-8D0E-4543-9DF4-8BF68103FD0DQ35993058-DD2514EF-1D1E-40A7-BA31-1C70B9274189Q40831676-F447FD1C-0413-4F03-9885-A732C80762ABQ42146900-D728CA29-4E4D-4975-B611-A111FFE19EFEQ44126037-61D5C5EA-96C7-41FA-A418-725132FEB340Q50499407-AD1B28DD-2EA6-4EA1-BC93-1F48EE40D07BQ52117348-A84C149A-1476-49FB-A7B7-1AE13C3536D7Q55670711-2C22DB16-F21F-4077-A0E5-EE790F365AF2
P2860
Linkage of blepharophimosis syndrome in a large Indian pedigree to chromosome 7p
description
1996 nî lūn-bûn
@nan
1996 թուականի Դեկտեմբերին հրատարակուած գիտական յօդուած
@hyw
1996 թվականի դեկտեմբերին հրատարակված գիտական հոդված
@hy
1996年の論文
@ja
1996年論文
@yue
1996年論文
@zh-hant
1996年論文
@zh-hk
1996年論文
@zh-mo
1996年論文
@zh-tw
1996年论文
@wuu
name
Linkage of blepharophimosis syndrome in a large Indian pedigree to chromosome 7p
@ast
Linkage of blepharophimosis syndrome in a large Indian pedigree to chromosome 7p
@en
Linkage of blepharophimosis syndrome in a large Indian pedigree to chromosome 7p
@nl
type
label
Linkage of blepharophimosis syndrome in a large Indian pedigree to chromosome 7p
@ast
Linkage of blepharophimosis syndrome in a large Indian pedigree to chromosome 7p
@en
Linkage of blepharophimosis syndrome in a large Indian pedigree to chromosome 7p
@nl
prefLabel
Linkage of blepharophimosis syndrome in a large Indian pedigree to chromosome 7p
@ast
Linkage of blepharophimosis syndrome in a large Indian pedigree to chromosome 7p
@en
Linkage of blepharophimosis syndrome in a large Indian pedigree to chromosome 7p
@nl
P2093
P356
P1476
Linkage of blepharophimosis syndrome in a large Indian pedigree to chromosome 7p
@en
P2093
D Nancarrow
G Kumaramanickavel
S S Badrinath
P304
P356
10.1093/HMG/5.12.2049
P407
P577
1996-12-01T00:00:00Z