Vertebral defects as an unusual mode of presentation of 22q11.2 deletion
Am J Med Genet A
.
2009 Dec;149A(12):2865-6.
doi: 10.1002/ajmg.a.32974.
Authors
L Faivre
1
,
A Masurel-Paulet
,
P Callier
,
N Mejean
,
S Gay
,
M Grimaldi
,
F Mugneret
,
F Huet
,
C Thauvin-Robinet
Affiliation
1
Centre de Référence Maladies Rares Anomalies du Développement et Syndromes Malformatifs, Hôpital d'Enfants, CHU Dijon, France. laurence.faivre@chu-dijon.fr
PMID:
19921642
DOI:
10.1002/ajmg.a.32974
No abstract available
Publication types
Case Reports
MeSH terms
Adult
Chromosome Deletion*
Chromosomes, Human, Pair 22 / genetics*
Female
Humans
Infant
Infant, Newborn
Male
Pregnancy
Radiography
Spine / abnormalities*
Spine / diagnostic imaging