Mutations in extracellular matrix genes NID1 and LAMC1 cause autosomal dominant dandy-walker malformation and occipital cephaloceles

Human Mutation

Volumn 34, Issue 8, 2013, Pages 1075-1079

  Darbro, Benjamin W ^a   Mahajan, Vinit B ^b   Gakhar, Lokesh ^b   Skeie, Jessica M ^b   Campbell, Elizabeth ^a   Wu, Shu ^a   Bing, Xinyu ^a   Millen, Kathleen J ^c   Dobyns, William B ^c   Kessler, John A ^d   Jalali, Ali ^d   Cremer, James ^e   Segre, Alberto ^e   Manak, J Robert ^a,b   Aldinger, Kimerbly A ^c   Suzuki, Satoshi ^f   Natsume, Nagato ^f   Ono, Maya ^f   Hai, Huynh Dai ^g   Viet, Le Thi ^g   Loddo, Sara ^h   Valente, Enza M ^h,i,j,k   Bernardini, Laura ^h   Ghonge, Nitin ^l   Ferguson, Polly J ^a   Bassuk, Alexander G ^a   more..

^a UNIVERSITY OF IOWA   (United States)

^b UNIVERSITY OF IOWA   (United States)

^c SEATTLE CHILDREN S RESEARCH INSTITUTE   (United States)

^d NORTHWESTERN UNIVERSITY   (United States)

^e University of Iowa   (United States)

^f AICHI GAKUIN UNIVERSITY   (Japan)

^g Odonto Maxillo Facial Hospital   (Viet Nam)

^h CASA SOLLIEVO DELLA SOFFERENZA HOSPITAL   (Italy)

ⁱ CSS Mendel Laboratory San Giovanni Rotondo   (Italy)

^j SAPIENZA UNIVERSITY OF ROME   (Italy)

^k UNIVERSITY OF SALERNO   (Italy)

^l Diwanchand Satyapal Aggarwal Imaging Research Centre   (India)

more..

Author keywords

Dandy Walker; Exome; Extracellular matrix; LAMC1; NID1

Indexed keywords

LAMC1 PROTEIN; MULTIPROTEIN COMPLEX; NID1 PROTEIN; UNCLASSIFIED DRUG;

ARTICLE; AUTOSOMAL DOMINANT INHERITANCE; DANDY WALKER SYNDROME; ENCEPHALOCELE; EXTRACELLULAR MATRIX; GENE DISRUPTION; GENE EXPRESSION; GENE MUTATION; GENE SEQUENCE; HUMAN; NUCLEOTIDE SEQUENCE; OCCIPITAL CEPHALOCELE; PATHOGENESIS; PEDIGREE; PHENOTYPE; PRIORITY JOURNAL; PROTEIN DOMAIN; PROTEIN FAMILY; PROTEIN INTERACTION; PROTEIN STRUCTURE; WHOLE EXOME SEQUENCING;

DANDY-WALKER; EXOME; EXTRACELLULAR MATRIX; LAMC1; NID1;

DANDY-WALKER SYNDROME; ENCEPHALOCELE; EXOME; EXTRACELLULAR MATRIX; HUMANS; LAMININ; MEMBRANE GLYCOPROTEINS; MUTATION; PROTEIN STRUCTURE, TERTIARY; SEQUENCE ANALYSIS, DNA;

EID: 84880415764     PISSN: 10597794     EISSN: 10981004     Source Type: Journal    
DOI: 10.1002/humu.22351     Document Type: Article

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