Novel STIL Compound Heterozygous Mutations Cause Severe Fetal Microcephaly and Centriolar Lengthening

STIL (SCL/TAL1 interrupting locus) is a core component of the centriole duplication process. STIL mutations have been associated with both autosomal recessive primary microcephaly (MCPH) and holoprosencephaly. In this report, we describe a family with multiple miscarriages and 2 terminations of preg...

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Enregistré dans:
Détails bibliographiques
Publié dans:Mol Syndromol
Auteurs principaux: Cristofoli, Francesca, De Keersmaecker, Bart, De Catte, Luc, Vermeesch, Joris R., Van Esch, Hilde
Format: Artigo
Langue:Inglês
Publié: S. Karger AG 2017
Sujets:
Original Article
Accès en ligne:https://ncbi.nlm.nih.gov/pmc/articles/PMC5701267/
https://ncbi.nlm.nih.gov/pubmed/29230157
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1159/000479666
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