Chromosome 22q11.2 deletion in a boy with Opitz (G/BBB) syndrome.

Chromosome 22q11.2 deletion in a boy with Opitz (G/BBB) syndrome.

Item
http://www.wikidata.org/entity/Q30469475
MID1 and MID2 homo- and heterodimerise to tether the rapamycin-sensitive PP2A regulatory subunit, alpha 4, to microtubules: implications for the clinical variability of X-linked Opitz GBBB syndrome and other developmental disordersVelo-cardio-facial syndrome: 30 Years of study.Taking advantage of early diagnosis: preschool children with the 22q11.2 deletion.Mutations in SPECC1L, encoding sperm antigen with calponin homology and coiled-coil domains 1-like, are found in some cases of autosomal dominant Opitz G/BBB syndromeHemizygous mutations in SNAP29 unmask autosomal recessive conditions and contribute to atypical findings in patients with 22q11.2DS.Adults with genetic syndromes and cardiovascular abnormalities: clinical history and management.Developmental trajectories in 22q11.2 deletion.The 22q11.2 deletion in African-American patients: an underdiagnosed population?
P2860

Chromosome 22q11.2 deletion in a boy with Opitz (G/BBB) syndrome.

Item
http://www.wikidata.org/entity/Q30469475
description
1996 nî lūn-bûn
@nan
1996 թուականի Մարտին հրատարակուած գիտական յօդուած
@hyw
1996 թվականի մարտին 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
Chromosome 22q11.2 deletion in a boy with Opitz (G/BBB) syndrome.
@ast
Chromosome 22q11.2 deletion in a boy with Opitz (G/BBB) syndrome.
@en
type
label
Chromosome 22q11.2 deletion in a boy with Opitz (G/BBB) syndrome.
@ast
Chromosome 22q11.2 deletion in a boy with Opitz (G/BBB) syndrome.
@en
prefLabel
Chromosome 22q11.2 deletion in a boy with Opitz (G/BBB) syndrome.
@ast
Chromosome 22q11.2 deletion in a boy with Opitz (G/BBB) syndrome.
@en
P1433
P1476
P2093
P2860
P304
P31
P356
P433
P478
P577
P698
P356
P1433
P1476
Chromosome 22q11.2 deletion in a boy with Opitz (G/BBB) syndrome.
@en
P2093
P2860
P304
P31
P356
10.1002/(SICI)1096-8628(19960329)62:3<274::AID-AJMG13>3.0.CO;2-H
P433
P478
P577
P698