GOMBO syndrome: another "pseudorecessive" disorder due to a cryptic translocation
Am J Med Genet
.
2000 Nov 13;95(2):185-6.
Authors
A Verloes
,
S Lesenfants
,
M Jamar
,
V Dideberg
,
C Herens
PMID:
11078574
No abstract available
Publication types
Case Reports
Letter
MeSH terms
Abnormalities, Multiple / genetics*
Family Health
Genes, Recessive
Humans
Intellectual Disability / genetics*
Karyotyping
Monosomy
Phenotype
Syndrome
Translocation, Genetic*
Trisomy