Autor: "Hamzeh AR" - OpacWWW

Skocz do pozycji: 1.

Tytuł:: Identification of a novel CTCF mutation responsible for syndromic intellectual disability - a case report.
Autorzy:: Bastaki F; Pediatric Department, Latifa Hospital, Dubai Health Authority, Dubai, United Arab Emirates.
Nair P; Centre for Arab Genomic Studies, P.O. Box 22252, Dubai, United Arab Emirates.
Mohamed M; Pediatric Department, Latifa Hospital, Dubai Health Authority, Dubai, United Arab Emirates.
Malik EM; Pediatric Department, Latifa Hospital, Dubai Health Authority, Dubai, United Arab Emirates.
Helmi M; Pediatric Department, Latifa Hospital, Dubai Health Authority, Dubai, United Arab Emirates.
Al-Ali MT; Centre for Arab Genomic Studies, P.O. Box 22252, Dubai, United Arab Emirates.
Hamzeh AR; Centre for Arab Genomic Studies, P.O. Box 22252, Dubai, United Arab Emirates. abdul.hamzeh@hmaward.org.ae.; Pokaż więcej
Źródło:: BMC medical genetics [BMC Med Genet] 2017 Jun 15; Vol. 18 (1), pp. 68. Date of Electronic Publication: 2017 Jun 15.
Typ publikacji:: Case Reports; Journal Article
MeSH Terms:: Frameshift Mutation*
Intellectual Disability/*genetics
Repressor Proteins/*genetics
CCCTC-Binding Factor ; DNA Mutational Analysis ; Female ; Humans ; Infant ; Intellectual Disability/pathology ; Syndrome

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