Gonadal mosaicism of large terminal de novo duplication and deletion in siblings with variable intellectual disability phenotypes.
Rahman, Muhammad M
Gonadal mosaicism of large terminal de novo duplication and deletion in siblings with variable intellectual disability phenotypes. [electronic resource] - Molecular genetics & genomic medicine 10 2019 - e00954 p. digital
Publication Type: Case Reports; Journal Article; Research Support, Non-U.S. Gov't
2324-9269
10.1002/mgg3.954 doi
Child
Child, Preschool
Chromosomes, Human, Pair 15
Chromosomes, Human, Pair 7
Dipeptidyl-Peptidases and Tripeptidyl-Peptidases
Female
Gene Deletion
Gene Duplication
Genetic Variation
Gonads--metabolism
Humans
Intellectual Disability--diagnosis
Male
Membrane Proteins--genetics
Mosaicism
Nerve Tissue Proteins--genetics
Phenotype
Potassium Channels
Receptor, IGF Type 1--genetics
Gonadal mosaicism of large terminal de novo duplication and deletion in siblings with variable intellectual disability phenotypes. [electronic resource] - Molecular genetics & genomic medicine 10 2019 - e00954 p. digital
Publication Type: Case Reports; Journal Article; Research Support, Non-U.S. Gov't
2324-9269
10.1002/mgg3.954 doi
Child
Child, Preschool
Chromosomes, Human, Pair 15
Chromosomes, Human, Pair 7
Dipeptidyl-Peptidases and Tripeptidyl-Peptidases
Female
Gene Deletion
Gene Duplication
Genetic Variation
Gonads--metabolism
Humans
Intellectual Disability--diagnosis
Male
Membrane Proteins--genetics
Mosaicism
Nerve Tissue Proteins--genetics
Phenotype
Potassium Channels
Receptor, IGF Type 1--genetics