A possible cranio-oro-facial phenotype in Cockayne syndrome

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...

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Main Authors: Bloch-Zupan, Agnès, Rousseaux, Morgan, Laugel, Virginie, Schmittbuhl, Matthieu, Mathis, Rémy, Desforges, Emmanuelle, Koob, Mériam, Zaloszyc, Ariane, Dollfus, Hélène, Laugel, Vincent
Formáid: Artigo
Teanga:Inglês
Foilsithe: BioMed Central 2013
Ábhair:
Research
Rochtain Ar Líne:https://ncbi.nlm.nih.gov/pmc/articles/PMC3599377/
https://ncbi.nlm.nih.gov/pubmed/23311583
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/1750-1172-8-9
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