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• W3123144976 abstract "Pathogenic mutations in TRAPPC9 are associated with autosomal recessive Intellectual Disability (ID), a major public health issue that affects about 1-3% of children worldwide.Clinical evaluation, magnetic resonance imaging, peripheral blood karyotype, Multiplex ligation-dependent probe amplification (MLPA), array CGH, and whole-exome sequencing were used to characterize etiology in three patients from two unrelated consanguineous families of Iranian descent with intellectual disability.Whole-exome sequencing showed two novel homozygous nonsense mutations (c.937C>T) in exon 3 and (c.3103C>T) in exon 19 of TRAPPC9 (NM_031466.7) in two unrelated consanguineous families.The two novel variants found in TRAPPC9 caused truncated protein and clinical manifestations such as ID, developmental delay, microcephaly, and brain abnormalities in three patients." @default.
• W3123144976 created "2021-02-01" @default.
• W3123144976 creator A5033174286 @default.
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• W3123144976 date "2021-01-29" @default.
• W3123144976 modified "2023-10-14" @default.
• W3123144976 title "Identification of two novel homozygous nonsense mutations in <i>TRAPPC9</i> in two unrelated consanguineous families with intellectual Disability from Iran" @default.
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• W3123144976 doi "https://doi.org/10.1002/mgg3.1610" @default.
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• W3123144976 hasPublicationYear "2021" @default.
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