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Analysis of centrosome and DNA damage response in PLK4 associated Seckel syndrome

Microcephalic primordial dwarfism (MPD) is a group of autosomal recessive inherited single-gene disorders with intrauterine and postnatal global growth failure. Seckel syndrome is the most common form of the MPD. Ten genes are known with Seckel syndrome. Using genome-wide SNP genotyping and homozygo...

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Bibliographische Detailangaben
Veröffentlicht in:Eur J Hum Genet
Hauptverfasser: Dinçer, Tuba, Yorgancıoğlu-Budak, Gülden, Ölmez, Akgün, Er, İdris, Dodurga, Yavuz, Özdemir, Özmert MA, Toraman, Bayram, Yıldırım, Adem, Sabir, Nuran, Akarsu, Nurten A, Semerci, C Nur, Kalay, Ersan
Format: Artigo
Sprache:Inglês
Veröffentlicht: Nature Publishing Group 2017
Schlagworte:
Online Zugang:https://ncbi.nlm.nih.gov/pmc/articles/PMC5602021/
https://ncbi.nlm.nih.gov/pubmed/28832566
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/ejhg.2017.120
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