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A novel truncating variant in ring finger protein 113A (RNF..:
Mendelsohn, Bryce A
;
Beleford, Daniah T
;
Abu‐El‐Haija, Aya
...
qt17b4j483. , 2020
Link:
https://escholarship.org/uc/item/17b4j483
RT Journal T1
A novel truncating variant in ring finger protein 113A (RNF113A) confirms the association of this gene with X‐linked trichothiodystrophy
UL https://suche.suub.uni-bremen.de/peid=base-ftcdlib:oai:escholarship.org:ark:_13030_qt17b4j483&Exemplar=1&LAN=DE A1 Mendelsohn, Bryce A A1 Beleford, Daniah T A1 Abu‐El‐Haija, Aya A1 Alsaleh, Norah S A1 Rahbeeni, Zuhair A1 Martin, Pierre‐Marie A1 Rego, Shannon A1 Huang, Alyssa A1 Capodanno, Gina A1 Shieh, Joseph T A1 Van Ziffle, Jessica A1 Risch, Neil A1 Alkuraya, Fowzan S A1 Slavotinek, Anne M PB eScholarship, University of California YR 2020 K1 Pediatric K1 Rare Diseases K1 Brain Disorders K1 Congenital Structural Anomalies K1 Aetiology K1 2.1 Biological and endogenous factors K1 Child K1 Preschool K1 DNA-Binding Proteins K1 Female K1 Genetic Association Studies K1 Genetic Diseases K1 X-Linked K1 Genetic Predisposition to Disease K1 Humans K1 Male K1 Mutation K1 Trichothiodystrophy Syndromes K1 X Chromosome Inactivation K1 RNF113A K1 spliceosome K1 trichothiodystrophy K1 zinc finger K1 Genetics K1 Clinical Sciences JF qt17b4j483 LK http://dx.doi.org/https://escholarship.org/uc/item/17b4j483 DO https://escholarship.org/uc/item/17b4j483 SF ELIB - SuUB Bremen
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