TY  - GEN
AU  - Capo-Chichi,José-Mario
AU  - Mehawej,Cybel
AU  - Delague,Valerie
AU  - Caillaud,Catherine
AU  - Khneisser,Issam
AU  - Hamdan,Fadi F
AU  - Michaud,Jacques L
AU  - Kibar,Zoha
AU  - Mégarbané,André
TI  - Neuroblastoma Amplified Sequence (NBAS) mutation in recurrent acute liver failure: Confirmatory report in a sibship with very early onset, osteoporosis and developmental delay
SN  - 1878-0849
PY  - 2016///1011
KW  - Adolescent
KW  - Adult
KW  - Age of Onset
KW  - Amino Acid Sequence
KW  - Child
KW  - Child, Preschool
KW  - Consanguinity
KW  - DNA Mutational Analysis
KW  - Developmental Disabilities
KW  - diagnosis
KW  - Female
KW  - High-Throughput Nucleotide Sequencing
KW  - Homozygote
KW  - Humans
KW  - Infant
KW  - Liver Failure, Acute
KW  - Male
KW  - Molecular Sequence Data
KW  - Mutation
KW  - Mutation, Missense
KW  - Neoplasm Proteins
KW  - chemistry
KW  - Osteoporosis
KW  - Pedigree
KW  - Phenotype
KW  - Polymorphism, Single Nucleotide
KW  - Sequence Alignment
KW  - Siblings
KW  - Young Adult
N1  - Publication Type: Case Reports; Journal Article; Research Support, Non-U.S. Gov't; Review
UR  - https://doi.org/10.1016/j.ejmg.2015.11.005
ER  -