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Clinical and Mutation Spectra of Cockayne Syndrome in India.

Neurology India - 1 Jan 2000

Narayanan Dhanya L, Tuteja Moni, McIntyre Adam D, Hegele Robert A, Calmels Nadege, Obringer Cathy, Laugel Vincent, Mandal Kausik, Phadke Shubha R

Abstract excerpt

BACKGROUND: Cockayne syndrome is an autosomal recessive disorder caused by biallelic mutations in ERCC6 or ERCC8 genes. AIMS: To study the clinical and mutation spectrum of Cockayne syndrome. SETTING AND DESIGN: Medical Genetics Outpatient Department of Sanjay Gandhi Post Graduate Institute of Medical Sciences, Lucknow. This was a prospective study from 2007 to 2015. MATERIALS AND METHODS: Clinical details were...

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PMID: 33904453
DOI: 10.4103/0028-3886.314579

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