TY  - GEN
AU  - Ferri,Lorenzo
AU  - Donati,Maria A
AU  - Funghini,Silvia
AU  - Cavicchi,Catia
AU  - Pensato,Viviana
AU  - Gellera,Cinzia
AU  - Natacci,Federica
AU  - Spaccini,Luigina
AU  - Gasperini,Serena
AU  - Vaz,Frédéric M
AU  - Cooper,David N
AU  - Guerrini,Renzo
AU  - Morrone,Amelia
TI  - Intra-individual plasticity of the TAZ gene leading to different heritable mutations in siblings with Barth syndrome
SN  - 1476-5438
PY  - 2016///0824
KW  - Acyltransferases
KW  - Adult
KW  - Barth Syndrome
KW  - diagnosis
KW  - Child
KW  - Chromosome Breakpoints
KW  - Female
KW  - Gene Deletion
KW  - Heterozygote
KW  - Humans
KW  - Infant
KW  - Male
KW  - Mutation
KW  - Siblings
KW  - Transcription Factors
KW  - genetics
N1  - Publication Type: Case Reports; Journal Article; Research Support, Non-U.S. Gov't
UR  - https://doi.org/10.1038/ejhg.2015.50
ER  -