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A TCTN2 mutation defines a novel Meckel Gruber syndrome locus
Journal article   Open access  Peer reviewed

A TCTN2 mutation defines a novel Meckel Gruber syndrome locus

Ranad Shaheen, Eissa Faqeih, Mohammed Z. Seidahmed, Asma Sunker, Faten Ezzat Alali, AlQahtani Khadijah and Fowzan S. Alkuraya
Human mutation, Vol.32(6), pp.573-578
06/2011
PMID: 21462283

Abstract

ciliopathy MKS sonic hedgehog TCTN2
url
https://doi.org/10.1002/humu.21507View
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