Further delineation of Temtamy syndrome of corpus callosum and ocular abnormalities.

doi:10.1002/ajmg.a.38615

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Article

Further delineation of Temtamy syndrome of corpus callosum and ocular abnormalities.

American journal of medical genetics. Part A - 1 Mar 2018

Alrakaf Laila, Al-Owain Mohammed A, Busehail Maryam, Alotaibi Maha A, Monies Dorota, Aldhalaan Hesham M, Alhashem Amal, Al-Hassnan Zuhair N, Rahbeeni Zuhair A, Murshedi Fathiya Al, Ani Nadia Al, Al-Maawali Almundher, Ibrahim Niema A, Abdulwahab Firdous M, Alsagob Maysoon, Hashem Mais O, Ramadan Wafaa, Abouelhoda Mohamed, Meyer Brian F, Kaya Namik, Maddirevula Sateesh, Alkuraya Fowzan S

Abstract excerpt

Temtamy syndrome is a syndromic form of intellectual disability characterized by ocular involvement, epilepsy and dysgenesis of the corpus callosum. After we initially mapped the disease to C12orf57, we noted a high carrier frequency of an ancient startloss founder mutation [c.1A>G; p.M1?] in our population, and variable phenotypic expressivity in newly identified cases. This study aims to combine 33 previously...

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PMID: 29383837
DOI: 10.1002/ajmg.a.38615

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