TY  - GEN
AU  - Rahman,Muhammad M
AU  - Uddin,Km Furkan
AU  - Al Jezawi,Nesreen K
AU  - Karuvantevida,Noushad
AU  - Akter,Hosneara
AU  - Dity,Nushrat J
AU  - Rahaman,Md Ashiquir
AU  - Begum,Maksuda
AU  - Rahaman,Md Atikur
AU  - Baqui,Md Abdul
AU  - Salwa,Zeena
AU  - Islam,Serajul
AU  - Woodbury-Smith,Marc
AU  - Basiruzzaman,Mohammed
AU  - Uddin,Mohammed
TI  - Gonadal mosaicism of large terminal de novo duplication and deletion in siblings with variable intellectual disability phenotypes
SN  - 2324-9269
PY  - 2020///0622
KW  - Child
KW  - Child, Preschool
KW  - Chromosomes, Human, Pair 15
KW  - Chromosomes, Human, Pair 7
KW  - Dipeptidyl-Peptidases and Tripeptidyl-Peptidases
KW  - Female
KW  - Gene Deletion
KW  - Gene Duplication
KW  - Genetic Variation
KW  - Gonads
KW  - metabolism
KW  - Humans
KW  - Intellectual Disability
KW  - diagnosis
KW  - Male
KW  - Membrane Proteins
KW  - genetics
KW  - Mosaicism
KW  - Nerve Tissue Proteins
KW  - Phenotype
KW  - Potassium Channels
KW  - Receptor, IGF Type 1
N1  - Publication Type: Case Reports; Journal Article; Research Support, Non-U.S. Gov't
UR  - https://doi.org/10.1002/mgg3.954
ER  -