Chromosome 20 long arm deletion in an elderly malformed man
about
Mutations at the SALL4 locus on chromosome 20 result in a range of clinically overlapping phenotypes, including Okihiro syndrome, Holt-Oram syndrome, acro-renal-ocular syndrome, and patients previously reported to represent thalidomide embryopathyA genotype-first approach for the molecular and clinical characterization of uncommon de novo microdeletion of 20q13.33Subtelomeric FISH analysis in 76 patients with syndromic developmental delay/intellectual disability.Characterization of the genomic structure, promoter region, and a tetranucleotide repeat polymorphism of the human neurotensin receptor gene.A novel de novo 20q13.32-q13.33 deletion in a 2-year-old child with poor growth, feeding difficulties and low bone mass.Constitutional deletion of chromosome 20q in two patients affected with albright hereditary osteodystrophy.
P2860
Chromosome 20 long arm deletion in an elderly malformed man
description
1993 nî lūn-bûn
@nan
1993 թուականի Փետրուարին հրատարակուած գիտական յօդուած
@hyw
1993 թվականի փետրվարին հրատարակված գիտական հոդված
@hy
1993年の論文
@ja
1993年論文
@yue
1993年論文
@zh-hant
1993年論文
@zh-hk
1993年論文
@zh-mo
1993年論文
@zh-tw
1993年论文
@wuu
name
Chromosome 20 long arm deletion in an elderly malformed man
@ast
Chromosome 20 long arm deletion in an elderly malformed man
@en
Chromosome 20 long arm deletion in an elderly malformed man
@en-gb
Chromosome 20 long arm deletion in an elderly malformed man
@nl
type
label
Chromosome 20 long arm deletion in an elderly malformed man
@ast
Chromosome 20 long arm deletion in an elderly malformed man
@en
Chromosome 20 long arm deletion in an elderly malformed man
@en-gb
Chromosome 20 long arm deletion in an elderly malformed man
@nl
prefLabel
Chromosome 20 long arm deletion in an elderly malformed man
@ast
Chromosome 20 long arm deletion in an elderly malformed man
@en
Chromosome 20 long arm deletion in an elderly malformed man
@en-gb
Chromosome 20 long arm deletion in an elderly malformed man
@nl
P2093
P2860
P356
P1476
Chromosome 20 long arm deletion in an elderly malformed man
@en
P2093
Ben-Sasson E
Grinblat J
P2860
P304
P356
10.1136/JMG.30.2.171
P407
P577
1993-02-01T00:00:00Z