Familial transmission of oculoauriculovertebral spectrum (Goldenhar syndrome) is not due to mutations in either EYA1 or SALL1
Author:
Publisher
Wiley
Subject
Genetics (clinical),Genetics
Reference20 articles.
1. Autosomal dominant microtia and ocular coloboma: New syndrome or an extension of the oculo-auriculo-vertebral spectrum?;Beck;Am J Med Genet Part A,2005
2. Detection of heterozygous SALL1 deletions by quantitative real time PCR proves the contribution of a SALL1 dosage effect in the pathogenesis of Townes-Brocks syndrome;Borozdin;Hum Mutat,2006
3. Branchio-oto-renal syndrome: The mutation spectrum in EYA1 and its phenotypic consequences;Chang;Hum Mutat,2004
4. Autosomal dominant transmission of a Goldenhar-like syndrome with linkage to the branchial-oto-renal syndrome;Graham;Pediatr Res,1995
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1. Breaking the silence: A qualitative exploration of parental perspectives of children with Goldenhar Syndrome;Heliyon;2024-02
2. Novel MYT1 variants expose the complexity of oculo‐auriculo‐vertebral spectrum genetic mechanisms;American Journal of Medical Genetics Part A;2021-04-21
3. Ocular features of Townes-Brocks syndrome;Journal of American Association for Pediatric Ophthalmology and Strabismus;2020-04
4. Methods and Challenges in a Cohort Study of Infants and Toddlers With Craniofacial Microsomia: The Clock Study;The Cleft Palate-Craniofacial Journal;2019-01-08
5. Neurodevelopment of Infants with and without Craniofacial Microsomia;The Journal of Pediatrics;2018-07
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