Atypical phenotype and intrafamilial variability associated with a novelSALL1 mutation
Author:
Publisher
Wiley
Subject
Genetics (clinical)
Reference6 articles.
1. A SALL1 mutation causes a branchio-oto-renal syndrome-like phenotype
2. SALL1 mutations in Townes-Brocks syndrome and related disorders
3. Mutations in the SALL1 putative transcription factor gene cause Townes-Brocks syndrome
4. Molecular Analysis of SALL1 Mutations in Townes-Brocks Syndrome
5. Townes-Brocks syndrome: Detection of aSALL1 mutation hot spot and evidence for a position effect in one patient
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1. Identification of two novel SALL1 mutations in chinese families with townes-brocks syndrome and literature review;Orphanet Journal of Rare Diseases;2023-08-29
2. Ocular features of Townes-Brocks syndrome;Journal of American Association for Pediatric Ophthalmology and Strabismus;2020-04
3. Delayed diagnosis of Townes-Brocks syndrome with multicystic kidneys and renal failure caused by a novel SALL1 nonsense mutation: A case report;Experimental and Therapeutic Medicine;2016-01-29
4. Distinctive spine abnormalities in patients with Goldenhar syndrome: tomographic assessment;European Spine Journal;2014-02-07
5. Congenital anomalies of kidney and hand: a review;Clinical Kidney Journal;2013-02-03
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