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Thanatophoric dysplasia in identical twins.

Female twins concordant for thanatophoric dysplasia are presented. Monozygosity was confirmed using minisatellite DNA genetic fingerprinting. The evidence supporting new dominant mutations as the likely cause of thanatophoric dysplasia is reviewed.

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Autori principali: Young, I D, Patel, I, Lamont, A C
Natura: Artigo
Lingua:Inglês
Pubblicazione: 1989
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Accesso online:https://ncbi.nlm.nih.gov/pmc/articles/PMC1017304/
https://ncbi.nlm.nih.gov/pubmed/2716037
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