Associated Papers
Molecular diagnosis, clinical evaluation and phenotypic spectrum of Townes-Brocks syndrome: insights from a large Chinese hearing loss cohort.
Yan X et al.
Journal of Medical Genetics, 2024
38296632 (PubMed )
Supplement: jmg-2023-109579supp006.pdf
Identification of two novel SALL1 mutations in chinese families with townes-brocks syndrome and literature review.
Wang Z et al.
Orphanet Journal of Rare Diseases, 2023
37644569 (PubMed )
Supplement: 13023_2023_2874_MOESM1_ESM.docx
Whole-Exome Sequencing Reveals Rare Germline Mutations in Patients With Hemifacial Microsomia.
Chen X et al.
Frontiers in Genetics, 2021
Expanded spectrum of oculo-auriculo-vertebral spectrum with imperforate anus in a male patient who is negative for SALL1 mutations.
Slavotinek AM et al.
Clinical Dysmorphology, 2011
Phenotypic variability in a family with Townes-Brocks syndrome.
Sudo Y et al.
Journal of Human Genetics, 2010
Wide phenotypic variations within a family with SALL1 mutations: Isolated external ear abnormalities to Goldenhar syndrome.
Kosaki R et al.
American Journal of Medical Genetics. Part A, 2007
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