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Duplication 8q12: confirmation of a novel recognizable phenotype with duane retraction syndrome and developmental delay.
Amouroux C, Vincent M, Blanchet P, Puechberty J, Schneider A, Chaze AM, Girard M, Tournaire M, Jorgensen C, Morin D, Sarda P, Lefort G, Geneviève D. Amouroux C, et al. Eur J Hum Genet. 2012 May;20(5):580-3. doi: 10.1038/ejhg.2011.243. Epub 2012 Jan 18. Eur J Hum Genet. 2012. PMID: 22258531 Free PMC article.
DRS associated with intellectual disability or developmental delay is observed in several genetic diseases: syndromes such as Goldenhar or Wildervanck syndrome and chromosomal anomalies such as 12q12 deletion. ...We hypothesize that CHD7 duplication is respon …
DRS associated with intellectual disability or developmental delay is observed in several genetic diseases: syndromes such as Goldenh …
An autosomal dominant facio-audio symphalangism syndrome with Klippel-Feil anomaly: a new variant of multiple synostoses.
Pfeiffer RA, Rott HD, Angerstein W. Pfeiffer RA, et al. Genet Couns. 1990;1(2):133-40. Genet Couns. 1990. PMID: 2080998
This association is delineated from two other "facio-audio-symphalangism" syndromes and from Wildervanck syndrome. Our observation confirms one previous description only by Pierson et al. (1981)....
This association is delineated from two other "facio-audio-symphalangism" syndromes and from Wildervanck syndrome. Our obse …