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Novel splice site mutation in EIF2AK3 gene causes Wolcott-Rallison syndrome in a consanguineous family from Saudi Arabia.

Congenital anomalies - 1 Jan 2018

Al-Aama Jumana Yousuf, Al-Zahrani Hams Saeed, Jelani Musharraf, Sabir Hesham Salih, Al-Saeedi Saad Abdullah, Ahmed Saleem

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PMID: 28220546
DOI: 10.1111/cga.12217

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Novel splice site mutation in EIF2AK3 gene causes Wolcott-Rallison syndrome in a consanguineous family from Saudi Arabia.PMID 28220546Read ↗

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EIF2AK3, encoding translation initiation factor 2-alpha kinase 3, is mutated in patients with Wolcott-Rallison syndrome.Semantic proximity Read ↗

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