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PMID: 8728708 Published · ppublish English Letter

Monozygotic twins with chromosome 22q11 deletion and discordant phenotype.

Journal of medical genetics ·Vol. 33 ·No. 3 ·1996-03-00 ·Pages 261

Hatchwell E

Abstract

暂无摘要

MeSH Terms
Chromosome Deletion Chromosome Mapping Chromosomes, Human, Pair 22 Diseases in Twins Heart Diseases/genetics Humans Phenotype Twins, Monozygotic
Authors & Affiliations
1 authors, click to expand affiliations / ORCID
Hatchwell E
References (9)
9 references, click to expand
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  3. Two-hit model for sporadic congenital anomalies in mice with the disorganization mutation.
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  4. Velocardiofacial syndrome in a mother and daughter: variability of the clinical phenotype.
    J Med Genet. 1993 Oct;30(10):825-7 PMID: 8230158
  5. Monozygotic twins with chromosome 22q11 deletion and discordant phenotype.
    J Med Genet. 1995 Sep;32(9):746-8 PMID: 8544199
  6. Upper limb malformations in DiGeorge syndrome.
    Am J Med Genet. 1995 Mar 13;56(1):39-41 PMID: 7747784
  7. Identification of a patient with Bernard-Soulier syndrome and a deletion in the DiGeorge/velo-cardio-facial chromosomal region in 22q11.2.
    Hum Mol Genet. 1995 Apr;4(4):763-6 PMID: 7633430
  8. Cerebellar atrophy in a patient with velocardiofacial syndrome.
    J Med Genet. 1995 Jul;32(7):561-3 PMID: 7562973
  9. Velo-cardio-facial syndrome and DiGeorge sequence with meningomyelocele and deletions of the 22q11 region.
    Am J Med Genet. 1994 Oct 1;52(4):445-9 PMID: 7747757
Article Info
Journal
Journal of medical genetics
Abbr.
J Med Genet
ISSN
0022-2593
Published
1996-03-00
Pages
261
Language
English
Region
England
NLM ID
2985087R
PMCID
PMC1051887
Subset
IM
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