TY  - GEN
AU  - Mazereeuw-Hautier,Juliette
AU  - Chiaverini,Christine
AU  - Jonca,Nathalie
AU  - Bieth,Eric
AU  - Dreyfus,Isabelle
AU  - Maza,Aude
AU  - Cardot-Leccia,Nathalie
AU  - Perrin,Christophe
AU  - Lacour,Jean-Philippe
TI  - Lethal form of keratitis-ichthyosis-deafness syndrome caused by the GJB2 mutation p.Ser17Phe
SN  - 1651-2057
PY  - 2015///1102
KW  - Amino Acid Substitution
KW  - genetics
KW  - Connexin 26
KW  - Connexins
KW  - Deafness
KW  - Exons
KW  - Fatal Outcome
KW  - Humans
KW  - Ichthyosis
KW  - Infant
KW  - Keratitis
KW  - Male
KW  - Mutation
N1  - Publication Type: Case Reports; Journal Article
UR  - https://doi.org/10.2340/00015555-1818
ER  -