Neuroblastoma Amplified Sequence (NBAS) mutation in recurrent acute liver failure: Confirmatory report in a sibship with very early onset, osteoporosis and developmental delay.
Capo-Chichi, José-Mario
Neuroblastoma Amplified Sequence (NBAS) mutation in recurrent acute liver failure: Confirmatory report in a sibship with very early onset, osteoporosis and developmental delay. [electronic resource] - European journal of medical genetics Dec 2015 - 637-41 p. digital
Publication Type: Case Reports; Journal Article; Research Support, Non-U.S. Gov't; Review
1878-0849
10.1016/j.ejmg.2015.11.005 doi
Adolescent
Adult
Age of Onset
Amino Acid Sequence
Child
Child, Preschool
Consanguinity
DNA Mutational Analysis
Developmental Disabilities--diagnosis
Female
High-Throughput Nucleotide Sequencing
Homozygote
Humans
Infant
Liver Failure, Acute--diagnosis
Male
Molecular Sequence Data
Mutation
Mutation, Missense
Neoplasm Proteins--chemistry
Osteoporosis--diagnosis
Pedigree
Phenotype
Polymorphism, Single Nucleotide
Sequence Alignment
Siblings
Young Adult
Neuroblastoma Amplified Sequence (NBAS) mutation in recurrent acute liver failure: Confirmatory report in a sibship with very early onset, osteoporosis and developmental delay. [electronic resource] - European journal of medical genetics Dec 2015 - 637-41 p. digital
Publication Type: Case Reports; Journal Article; Research Support, Non-U.S. Gov't; Review
1878-0849
10.1016/j.ejmg.2015.11.005 doi
Adolescent
Adult
Age of Onset
Amino Acid Sequence
Child
Child, Preschool
Consanguinity
DNA Mutational Analysis
Developmental Disabilities--diagnosis
Female
High-Throughput Nucleotide Sequencing
Homozygote
Humans
Infant
Liver Failure, Acute--diagnosis
Male
Molecular Sequence Data
Mutation
Mutation, Missense
Neoplasm Proteins--chemistry
Osteoporosis--diagnosis
Pedigree
Phenotype
Polymorphism, Single Nucleotide
Sequence Alignment
Siblings
Young Adult