A terminal deletion of the long arm of chromosome 4 [46,XX,del(4)(q33)] in an infant with phenotypic features of Williams syndrome.
about
Molecular definition of the chromosome 7 deletion in Williams syndrome and parent-of-origin effects on growthThe calcitonin-CGRP gene in the infantile hypercalcaemia/Williams-Beuren syndrome.Unbalanced 13;18 translocation and Williams syndrome.A complex chromosome rearrangement with 10 breakpoints: tentative assignment of the locus for Williams syndrome to 4q33----q35.1.De novo t(X;21)(q28;q11) in a girl with phenotypic features of Williams-Beuren syndrome.Williams syndrome.Williams-Beuren syndrome: phenotypic variability and deletions of chromosomes 7, 11, and 22 in a series of 52 patients.A new recognisable syndrome in three sibs with congenital heart disease, round face with depressed nasal bridge, short stature, and developmental retardation.Terminal chromosome 4q deletion syndrome in an infant with hearing impairment and moderate syndromic features: review of literature.Cardiac anomalies in Williams-Beuren syndrome.Del(4)(q33----qter): another case report of a child with mild dysmorphism.
P2860
Q24675777-7F98C676-4E6E-4D83-BA73-CEC027019982Q33593298-0708171B-B007-4983-9A8D-8F7EECE917E3Q33593677-642D8831-E55A-43C8-826F-4DAA298099A1Q33593938-C77ECD2C-4FA4-4F4A-AA5B-7C41F3BE5C88Q33594571-E74D8AA0-E821-4795-80C7-F8073EC572F7Q33673673-DF6A3AA8-DB61-4F28-84F2-87D63AE3BA32Q33678087-B8B7A40C-E026-40C9-92AB-482707944B10Q33681976-2A9372A6-948F-463A-A835-CD3657B3E0BBQ33828795-CF6EB25F-7421-441B-8DC1-FEBCEE4F4274Q35604951-F0C1F357-A2BE-4396-A59D-C9F7844AC6EFQ41634501-DC40386C-7CD6-432F-9BA2-BF245B596418
P2860
A terminal deletion of the long arm of chromosome 4 [46,XX,del(4)(q33)] in an infant with phenotypic features of Williams syndrome.
description
1986 nî lūn-bûn
@nan
1986 թուականի Հոկտեմբերին հրատարակուած գիտական յօդուած
@hyw
1986 թվականի հոտեմբերին հրատարակված գիտական հոդված
@hy
1986年の論文
@ja
1986年論文
@yue
1986年論文
@zh-hant
1986年論文
@zh-hk
1986年論文
@zh-mo
1986年論文
@zh-tw
1986年论文
@wuu
name
A terminal deletion of the lon ...... features of Williams syndrome.
@ast
A terminal deletion of the lon ...... features of Williams syndrome.
@en
type
label
A terminal deletion of the lon ...... features of Williams syndrome.
@ast
A terminal deletion of the lon ...... features of Williams syndrome.
@en
prefLabel
A terminal deletion of the lon ...... features of Williams syndrome.
@ast
A terminal deletion of the lon ...... features of Williams syndrome.
@en
P2093
P2860
P356
P1476
A terminal deletion of the lon ...... features of Williams syndrome
@en
P2093
E V Davison
R D Jefferson
P2860
P304
P356
10.1136/JMG.23.5.474
P407
P50
P577
1986-10-01T00:00:00Z