Cytogenetic diagnosis of Roberts SC phocomelia syndrome: First report from Kashmir

Author:

Malla Tahir M.,Pandith Arshad A.,Dar Fayaz A.,Zargar Mahrukh H.

Publisher

Springer Science and Business Media LLC

Subject

Genetics(clinical)

Reference15 articles.

1. A familial dysmorphogenetic syndrome of limb deformities, characteristic facial appearance and associated anomalies: the ‘pseudothalidomide’ or ‘SC-syndrome’;Herrmann;Birth Defects Orig Art Ser,1969

2. Roberts syndrome: study of four new Rgyptian cases with comparison of clinical and cytogenetic findings;Temtamy;Genet Couns,2006

3. Roberts syndrome is caused by mutations in ESCO2, a human homolog of yeast ECO1 that is essential for the establishment of sister chromatid cohesion;Vega;Nat Genet,2005

4. The molecular mechanism underlying Roberts syndrome involves loss of ESCO2 acetyltransferase activity;Gordillo;Hum Mol Genet,2008

5. A sibship with the pseudothalidomide syndrome and an association with Rh incompatibility;Judge;Med J Aust,1973

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