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Monozygotic twins with chromosome 22q11 deletion and discordant phenotype.

We report monozygotic twins concordant for 22q11.2 deletion but discordant for clinical phenotype. Both boys show the typical dysmorphic features with short palpebral fissures, square nasal tip, small mouth, and both have nasal speech, but only one twin had a heart defect. They show that the phenoty...

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Autors principals: Goodship, J, Cross, I, Scambler, P, Burn, J
Format: Artigo
Idioma:Inglês
Publicat: 1995
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Accés en línia:https://ncbi.nlm.nih.gov/pmc/articles/PMC1051680/
https://ncbi.nlm.nih.gov/pubmed/8544199
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