Biallelic mutations in human DCC cause developmental split-brain syndrome

Nature Genetics

Volumn 49, Issue 4, 2017, Pages 606-612

  Jamuar, Saumya S ^a,b,c   Schmitz Abe, Klaus ^a,b   D'Gama, Alissa M ^a   Drottar, Marie ^a   Chan, Wai Man ^a,b   Peeva, Maya ^a,b   Servattalab, Sarah ^a   Lam, Anh Thu N ^a   Delgado, Mauricio R ^d,e   Clegg, Nancy J ^d   Zayed, Zayed Al ^f   Dogar, Mohammad Asif ^g   Alorainy, Ibrahim A ^h   Jamea, Abdullah Abu ^h   Abu Amero, Khaled ^h   Griebel, May ⁱ   Ward, Wendy ⁱ   Lein, Ed S ^j   Markianos, Kyriacos ^a,b   Barkovich, A James ^k   Robson, Caroline D ^a   Grant, P Ellen ^a   Bosley, Thomas M ^l,n   Engle, Elizabeth C ^a,b,m   Walsh, Christopher A ^a,b,m   Yu, Timothy W ^a,b,m   more..

^a BOSTON CHILDREN S HOSPITAL   (United States)

^b HARVARD MEDICAL SCHOOL   (United States)

^c KK WOMEN'S AND CHILDREN'S HOSPITAL   (Singapore)

^d TEXAS SCOTTISH RITE HOSPITAL FOR CHILDREN   (United States)

^e UNIVERSITY OF TEXAS SOUTHWESTERN MEDICAL CENTER   (United States)

^f KING FAISAL SPECIALIST HOSPITAL AND RESEARCH CENTER   (Saudi Arabia)

^g HEART AND VASCULAR INSTITUTE   (United Arab Emirates)

^h KING SAUD UNIVERSITY   (Saudi Arabia)

ⁱ ARKANSAS CHILDREN S HOSPITAL   (United States)

^j ALLEN INSTITUTE FOR BRAIN SCIENCE   (United States)

^k UNIVERSITY OF CALIFORNIA   (United States)

^l JOHNS HOPKINS UNIVERSITY   (United States)

^m BROAD INSTITUTE OF MIT AND HARVARD   (United States)

ⁿ KING SAUD UNIVERSITY   (Saudi Arabia)

more..

Author keywords

[No Author keywords available]

Indexed keywords

CELL SURFACE RECEPTOR; DELETED IN COLORECTAL CARCINOMA PROTEIN; UNCLASSIFIED DRUG;

ALLELE; ARTICLE; BRAIN STEM; CLINICAL ARTICLE; CONTROLLED STUDY; COPY NUMBER VARIATION; CORPUS CALLOSUM; CORPUS CALLOSUM AGENESIS; DIFFUSION TENSOR IMAGING; DIFFUSION WEIGHTED IMAGING; FRACTIONAL ANISOTROPY; GAZE PARALYSIS; GENE DELETION; GENE MUTATION; GENETIC DISORDER; HETEROZYGOSITY; HOMOZYGOSITY; HUMAN; HUMAN CELL; HUMAN TISSUE; INTELLECTUAL IMPAIRMENT; LOSS OF FUNCTION MUTATION; MALE; NEUROIMAGING; PHENOTYPE; PRIORITY JOURNAL; SCOLIOSIS; WHITE MATTER; ABNORMALITIES; BRAIN; CENTRAL NERVOUS SYSTEM; COLORECTAL TUMOR; FEMALE; GENE EXPRESSION REGULATION; GENETICS; HETEROZYGOSITY LOSS; METABOLISM; MUTATION; NERVE CELL; SINGLE NUCLEOTIDE POLYMORPHISM;

BRAIN; CENTRAL NERVOUS SYSTEM; COLORECTAL NEOPLASMS; FEMALE; GENE EXPRESSION REGULATION, DEVELOPMENTAL; HUMANS; INTELLECTUAL DISABILITY; LOSS OF HETEROZYGOSITY; MALE; MUTATION; NEURONS; PHENOTYPE; POLYMORPHISM, SINGLE NUCLEOTIDE; RECEPTORS, CELL SURFACE;

EID: 85014109975     PISSN: 10614036     EISSN: 15461718     Source Type: Journal    
DOI: 10.1038/ng.3804     Document Type: Article

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