Three New Mutations and Mild, Asymmetrical Phenotype in the Highly Distinctive LAMM Syndrome: A Report of Eight Further Cases

Labyrinthine aplasia, microtia, and microdontia (LAMM) is an autosomal recessive condition causing profound congenital deafness, complete absence of inner ear structures (usually Michel’s aplasia), microtia (usually type 1) and microdontia. To date, several families have been described with this con...

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Detalles Bibliográficos
Autores principales: Al Yassin, Amina, D’Arco, Felice, Morín, Matías, Pagarkar, Waheeda, Harrop-Griffiths, Katherine, Shaida, Azhar, Fernández, Elena, Cullup, Tom, De-Souza, Bianca, Moreno-Pelayo, Miguel Angel, Bitner-Glindzicz, Maria
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2019
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6678228/
https://www.ncbi.nlm.nih.gov/pubmed/31336982
http://dx.doi.org/10.3390/genes10070529

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6678228/
https://www.ncbi.nlm.nih.gov/pubmed/31336982
http://dx.doi.org/10.3390/genes10070529

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