Associated Papers
Heterogeneity in biomarkers, mitogenome and genetic disorders of the Arab population with special emphasis on large-scale whole-exome sequencing.
Borgio JF
Archives of Medical Science : Ams, 2023
Temtamy syndrome caused by a new C12orf57 variant in a Chinese boy, including pedigree analysis and literature review.
Wang Y et al.
Experimental and Therapeutic Medicine, 2020
Further delineation of Temtamy syndrome of corpus callosum and ocular abnormalities.
Alrakaf L et al.
American Journal of Medical Genetics. Part A, 2018
Exome sequencing identifies compound heterozygous mutations in C12orf57 in two siblings with severe intellectual disability, hypoplasia of the corpus callosum, chorioretinal coloboma, and intractable seizures.
Platzer K et al.
American Journal of Medical Genetics. Part A, 2014
Molecular analysis of the genetic defect in a large cohort of IP patients and identification of novel NEMO mutations interfering with NF-kappaB activation.
Fusco F et al.
Human Molecular Genetics, 2004
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