Variable expressivity of FGF3 mutations associated with deafness and LAMM syndrome

BACKGROUND: Recessive mutations of fibroblast growth factor 3 (FGF3) can cause LAMM syndrome (OMIM 610706), characterized by fully penetrant complete labyrinthine aplasia, microtia and microdontia. METHODS: We performed a prospective molecular genetic and clinical study of families segregating heari...

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Detalles Bibliográficos
Autores principales: Riazuddin, Saima, Ahmed, Zubair M, Hegde, Rashmi S, Khan, Shaheen N, Nasir, Idrees, Shaukat, Uzma, Riazuddin, Sheikh, Butman, John A, Griffith, Andrew J, Friedman, Thomas B, Choi, Byung Yoon
Formato: Texto
Lenguaje:English
Publicado: BioMed Central 2011
Materias:
Research Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3042908/
https://www.ncbi.nlm.nih.gov/pubmed/21306635
http://dx.doi.org/10.1186/1471-2350-12-21

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3042908/
https://www.ncbi.nlm.nih.gov/pubmed/21306635
http://dx.doi.org/10.1186/1471-2350-12-21

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