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Somatic and germ-line mosaicism in Rubinstein-Taybi syndrome
American Journal of Medical Genetics, 06/22/09

Chiang PW et al. - The authors hypothesize mutations in CREBBP in these two families occur in the postzygotic stage in one of the parents (one generation ahead) of the affected individual. Additional family studies are required to determine how common somatic and/or gonadal mosaicism is present in RSTS patients.

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Mosaicism and haemophilia
Haemophilia, 11/05/09 Relevance Score: 91%

Germline Mosaicism for KIF21A Mutation (p.R954L) Mimicking Recessive Inheritance for Congenital Fibrosis of the Extraocular Muscles
Ophthalmology, 11/09/09 Relevance Score: 83%

A Novel Missense Mutation in LIS1 in a Child With Subcortical Band Heterotopia and Pachygyria Inherited From His Mildly Affected Mother With Somatic Mosaicism
Journal of Child Neurology, 10/26/09 Relevance Score: 83%

Cytogenetic analysis of human embryos and embryonic stem cells derived from monopronuclear zygotes
Journal of Assisted Reproduction and Genetics, 11/09/09 Relevance Score: 80%

Genotype-phenotype correlations in L1 syndrome: a guide for genetic counselling and mutation analysis
Journal of Medical Genetics, 11/10/09 Relevance Score: 77%