Mutations in PVRL4, Encoding cell adhesion molecule nectin-4, cause ectodermal dysplasia-syndactyly syndrome

American Journal of Human Genetics

Volumn 87, Issue 2, 2010, Pages 265-273

  Brancati, Francesco ^a,b   Fortugno, Paola ^c   Bottillo, Irene ^b   Lopez, Marc ^d   Josselin, Emmanuelle ^d   Boudghene Stambouli, Omar ^e   Agolini, Emanuele ^b   Bernardini, Laura ^b   Bellacchio, Emanuele ^b   Iannicelli, Miriam ^b   Rossi, Alfredo ^f   Dib Lachachi, Amina ^e   Stuppia, Liborio ^a   Palka, Giandomenico ^a   Mundlos, Stefan ^g,h   Stricker, Sigmar ^g,h   Kornak, Uwe ^g,h   Zambruno, Giovanna ^c   Dallapiccola, Bruno ⁱ  

^a UNIVERSITY OF CHIETI   (Italy)

^b CASA SOLLIEVO DELLA SOFFERENZA HOSPITAL   (Italy)

^c LABORATORIO DI PATOLOGIA VASCOLARE   (Italy)

^d CNRS   (France)

^e UNIVERSITY OF TLEMCEN   (Algeria)

^f SAPIENZA UNIVERSITY OF ROME   (Italy)

^g CHARITÉ UNIVERSITÄTSMEDIZIN BERLIN   (Germany)

^h MAX PLANCK INSTITUTE FOR MOLECULAR GENETICS   (Germany)

ⁱ BAMBINO GESÙ CHILDREN S HOSPITAL   (Italy)

Author keywords

[No Author keywords available]

Indexed keywords

ACTIN; CADHERIN; CATENIN; CELL ADHESION MOLECULE; CELL ADHESION MOLECULE NECTIN 4; PROTEIN; PROTEIN PVRL 4; UNCLASSIFIED DRUG;

ADULT; ALGERIA; ARTICLE; CELL JUNCTION; CHILD; CHROMOSOME 1Q; CYTOSKELETON; ECTODERMAL DYSPLASIA; ECTODERMAL DYSPLASIA SYNDACTYLY SYNDROME; ETHNICITY; EXON SKIPPING; FRAMESHIFT MUTATION; GENE IDENTIFICATION; GENE LOCUS; GENE MAPPING; GENE MUTATION; GENETIC ANALYSIS; GENETIC CODE; HAIR FOLLICLE; HUMAN; KERATINOCYTE; MALE; MISSENSE MUTATION; PHENOTYPE; PRIORITY JOURNAL; PROTEIN BINDING; PROTEIN EXPRESSION; PROTEIN LOCALIZATION; SCHOOL CHILD; SYNDACTYLY;

ABNORMALITIES, MULTIPLE; ADULT; AMINO ACID SEQUENCE; ANIMALS; CELL ADHESION MOLECULES; CHILD; ECTODERMAL DYSPLASIA; EXTREMITIES; FAMILY; FEMALE; GENE EXPRESSION REGULATION, DEVELOPMENTAL; HAIR; HUMANS; MALE; MICE; MOLECULAR SEQUENCE DATA; MUTATION; PEDIGREE; PROTEIN TRANSPORT; RNA, MESSENGER; SKIN; SYNDACTYLY; SYNDROME;

MURINAE;

EID: 77955579487     PISSN: 00029297     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.ajhg.2010.07.003     Document Type: Article

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