TY  - JOUR
AU  - Al Yassin, Amina
AU  - D'Arco, Felice
AU  - Morín, Matías
AU  - Pagarkar, Waheeda
AU  - Harrop-Griffiths, Katherine
AU  - Shaida, Azhar
AU  - Fernández, Elena
AU  - Cullup, Tom
AU  - De-Souza, Bianca
AU  - Moreno-Pelayo, Miguel Angel
AU  - Bitner-Glindzicz, Maria
PY  - 2019
DO  - 10.3390/genes10070529
UR  - http://hdl.handle.net/10668/14293
T2  - Genes
AB  - 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,...
LA  - en
KW  - FGF3
KW  - LAMM syndrome
KW  - and microdontia
KW  - congenital deafness
KW  - external ear abnormalities
KW  - labyrinthine aplasia
KW  - microtia
KW  - Adult
KW  - Child, Preschool
KW  - Congenital Microtia
KW  - Consanguinity
KW  - DNA Mutational Analysis
KW  - Deafness
KW  - Ear, Inner
KW  - Female
KW  - Fibroblast Growth Factor 3
KW  - Hearing Loss, Sensorineural
KW  - Humans
KW  - Infant
KW  - Infant, Newborn
KW  - Male
KW  - Mutation
KW  - Phenotype
KW  - Tooth Abnormalities
TI  - Three New Mutations and Mild, Asymmetrical Phenotype in the Highly Distinctive LAMM Syndrome: A Report of Eight Further Cases.
TY  - research article
VL  - 10
ER  -