Inverted repeats (IRs) can facilitate structural variation as crucibles of genomic rearrangement. Complex DUP-TRP/INV-DUP rearrangements that contain breakpoint junctions within IRs have been recently

NIAID Data Ecosystem50

BubR1 allelic effects drive phenotypic heterogeneity in MVA progeria syndrome [3 month old RNA-seq]

遗传病机制

RNA测序分析

Mosaic-variegated aneuploidy (MVA) syndrome is a rare childhood disorder characterized by biallelic BUBR1, CEP57, or TRIP13 aberrations, increased chromosome missegregation, and a broad spectrum of cl

NIAID Data Ecosystem40

Supplementary Material for: Disruption of the ATE1 and SLC12A1 Genes by Balanced Translocation in a Boy with Non-Syndromic Hearing Loss

非综合征性听力损失

遗传病机制

We report on a boy with non-syndromic hearing loss and an apparently balanced translocation t(10;15)(q26.13;q21.1). The same translocation was found in the normally hearing brother, father and paterna

NIAID Data Ecosystem70

Aberrant Mitochondrial Respiratory Complex I Function in RTS

遗传病机制

线粒体功能障碍

Rothmund-Thomson syndrome (RTS) is an autosomal recessive genetic disorder characterized by poikiloderma, small stature, skeletal anomalies, sparse brows/lashes, cataracts, and predisposition to cance

NIAID Data Ecosystem50

A non-coding mutation implicates HCFC1 in non-syndromic intellectual disability

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