Loss-of-function mutation in APC2 causes sotos syndrome features

Cell Reports

Volumn 10, Issue 9, 2015, Pages 1585-1598

  Almuriekhi, Mariam ^a   Shintani, Takafumi ^b,c   Fahiminiya, Somayyeh ^d,e   Fujikawa, Akihiro ^b   Kuboyama, Kazuya ^b   Takeuchi, Yasushi ^b   Nawaz, Zafar ^a   Nadaf, Javad ^d,e   Kamel, Hussein ^a   Kitam, AbuKhadija ^a   Samiha, Zaineddin ^a   Mahmoud, Laila ^a   Ben Omran, Tawfeg ^a   Majewski, Jacek ^d,e   Noda, Masaharu ^b,c  

^a HAMAD MEDICAL CORPORATION   (Qatar)

^b NATIONAL INSTITUTE FOR BASIC BIOLOGY   (Japan)

^c GRADUATE UNIVERSITY FOR ADVANCED STUDIES   (Japan)

^d MCGILL UNIVERSITY   (Canada)

^e MCGILL UNIVERSITY   (Canada)

Author keywords

[No Author keywords available]

Indexed keywords

ANAPHASE PROMOTING COMPLEX SUBUNIT 2;

ANIMAL CELL; ANIMAL EXPERIMENT; ANIMAL MODEL; APC2 GENE; ARTICLE; BRAIN NERVE CELL; CASE REPORT; CELL MIGRATION; CHILD; CLINICAL FEATURE; COMPUTER ASSISTED TOMOGRAPHY; CONTROLLED STUDY; DOWN REGULATION; EMBRYO; FEMALE; FRAMESHIFT MUTATION; GENE; GENE DUPLICATION; GENE EXPRESSION; GENE SILENCING; HOMOZYGOSITY; HUMAN; KNOCKOUT MOUSE; LOSS OF FUNCTION MUTATION; MALE; MOUSE; NONHUMAN; NSD1 GENE; NUCLEAR MAGNETIC RESONANCE IMAGING; PRIORITY JOURNAL; SCHOOL CHILD; SEQUENCE ANALYSIS; SOTOS SYNDROME; WHOLE EXOME SEQUENCING;

MUS;

EID: 84924531142     PISSN: None     EISSN: 22111247     Source Type: Journal    
DOI: 10.1016/j.celrep.2015.02.011     Document Type: Article

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