- Tytuł:
- Identification of a de novo microdeletion 1q44 in a patient with hypogenesis of the corpus callosum, seizures and microcephaly - A case report.
- Autorzy:
- Źródło:
- Gene [Gene] 2017 Jun 15; Vol. 616, pp. 41-44. Date of Electronic Publication: 2017 Mar 21.
- Typ publikacji:
- Case Reports; Journal Article
- MeSH Terms:
-
Sequence Deletion*
Agenesis of Corpus Callosum/*genetics
Chromosomes, Human, Pair 1/*genetics
Microcephaly/*genetics
Seizures/*genetics
Female ; Humans ; Infant ; Oligonucleotide Array Sequence Analysis ; Polymorphism, Single Nucleotide ; Repressor Proteins/genetics
Czasopismo naukowe