Clinical Genetics · 1995 · 77 citations · 9 references
Life SciencesGeneticsPediatricsHuman GeneticsPediatric GeneticsCongenital AnomaliesCongenital DisordersGenetic DisordersGenetic SyndromesNeurodevelopmental DisordersTwin StudiesChildhood Twin DevelopmentDisease ConcordanceDizygotic TwinsInfancy StageMonozygotic TwinsTwin Pair Discordance
We describe monozygotic twin sisters concordant for Rubinstein-Taybi syndrome diagnosed at the age of 10 weeks. The typical features of Rubinstein-Taybi syndrome in early infancy increasingly developed towards the total "Gestalt" at the age of 2 years and 10 months.
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Monozygotic twinning and structural defects
Albert Schinzel, David W. Smith, James R. Miller · The Journal of Pediatrics · 1979 · 530 citations
Rubinstein-Taybi syndrome caused by submicroscopic deletions within 16p13.3.
M.H. Breuning, Hans G. Dauwerse, G Fugazza et al. · PubMed · 1993 · 122 citations
Rubinstein-taybi syndrome in a mother and son
Raoul C. M. Hennekam, E. J. P. Lommen, Jan L.M. Strengers et al. · European Journal of Pediatrics · 1989 · 53 citations
Rubinstein-Taybi syndrome: The changing face
Judith Allanson · American Journal of Medical Genetics · 2005 · 42 citations