Article
A possible cranio-oro-facial phenotype in Cockayne syndrome.
Orphanet journal of rare diseases - 14 Jan 2013
Bloch-Zupan Agnès, Rousseaux Morgan, Laugel Virginie, Schmittbuhl Matthieu, Mathis Rémy, Desforges Emmanuelle, Koob Mériam, Zaloszyc Ariane, Dollfus Hélène, Laugel Vincent
Abstract excerpt
BACKGROUND: Cockayne Syndrome CS (Type A - CSA; or CS Type I OMIM #216400) (Type B - CSB; or CS Type II OMIM #133540) is a rare autosomal recessive neurological disease caused by defects in DNA repair characterized by progressive cachectic dwarfism, progressive intellectual disability with cerebral leukodystrophy, microcephaly, progressive pigmentary retinopathy, sensorineural deafness photosensitivity and...
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