Manitoba-oculo-tricho-anal (MOTA) syndrome is caused by mutations in FREM1

Journal of Medical Genetics

Volumn 48, Issue 6, 2011, Pages 375-382

  Slavotinek, Anne M ^a   Baranzini, Sergio E ^a   Schanze, Denny ^b   Labelle Dumais, Cassandre ^c   Short, Kieran M ^d   Chao, Ryan ^a   Yahyavi, Mani ^a   Bijlsma, Emilia K ^e   Chu, Catherine ^a   Musone, Stacey ^a   Wheatley, Ashleigh ^f   Kwok, Pui Yan ^a   Marles, Sandra ^f   Fryns, Jean Pierre ^g   Maga, A Murat ^h   Hassan, Mohamed G ^h   Gould, Douglas B ^c   Madireddy, Lohith ^a   Li, Chumei ^h   Cox, Timothy C ^d,i   Smyth, Ian ^d   Chudley, Albert E ^f   Zenker, Martin ^b   more..

^a UNIVERSITY OF CALIFORNIA   (United States)

^b UNIVERSITY HOSPITAL MAGDEBURG   (Germany)

^c UNIVERSITY OF CALIFORNIA   (United States)

^d MONASH UNIVERSITY   (Australia)

^e LEIDEN UNIVERSITY MEDICAL CENTER   (Netherlands)

^f UNIVERSITY OF MANITOBA   (Canada)

^g UNIVERSITY OF LEUVEN   (Belgium)

^h MCMASTER UNIVERSITY   (Canada)

ⁱ UNIVERSITY OF WASHINGTON   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

CELL PROTEIN; FRAS 1 RELATED EXTRACELLULAR MATRIX PROTEIN 1; GENOMIC DNA; MESSENGER RNA; UNCLASSIFIED DRUG;

ADOLESCENT; ADULT; ANIMAL CELL; ANIMAL EXPERIMENT; ANIMAL TISSUE; ANOPHTHALMIA; ANORECTAL MALFORMATION; ARTICLE; AUTOSOMAL RECESSIVE DISORDER; CANADA; CHILD; CLEFT NOSE; CLINICAL ARTICLE; CONTROLLED STUDY; COPY NUMBER VARIATION; CRYPTOPHTHALMOS; EXTRACELLULAR MATRIX; FEMALE; FRAMESHIFT MUTATION; FREM 1 GENE; GENE; GENE DELETION; GENE MAPPING; GENE SEQUENCE; GENOTYPE; HISTOPATHOLOGY; HOMOZYGOSITY; HUMAN; HUMAN CELL; KIDNEY AGENESIS; LOSS OF FUNCTION MUTATION; MALE; MANITOBA OCULOTRICHOANAL SYNDROME; MICRO-COMPUTED TOMOGRAPHY; MICROPHTHALMIA; MOUSE; MOUSE MUTANT; MULTIPLE MALFORMATION SYNDROME; NONHUMAN; NOSE MALFORMATION; NUCLEOTIDE SEQUENCE; OMPHALOCELE; PATHOGENESIS; PEDIGREE ANALYSIS; PHENOTYPE; PRESCHOOL CHILD; PRIORITY JOURNAL; RECTUM PROLAPSE; REVERSE TRANSCRIPTION POLYMERASE CHAIN REACTION; SCHOOL CHILD; SINGLE NUCLEOTIDE POLYMORPHISM; SPLICING DEFECT; WESTERN BLOTTING;

ABNORMALITIES, MULTIPLE; ADOLESCENT; ADULT; ANAL CANAL; ANIMALS; ANUS, IMPERFORATE; BASE SEQUENCE; CHILD; CHILD, PRESCHOOL; COLOBOMA; EXTRACELLULAR MATRIX PROTEINS; EYELIDS; FEMALE; FRASER SYNDROME; GENE DOSAGE; HERNIA, UMBILICAL; HUMANS; HYPERTELORISM; MALE; MICE; MOLECULAR SEQUENCE DATA; MUTATION; NOSE; NOSE DISEASES; OLIGONUCLEOTIDE ARRAY SEQUENCE ANALYSIS; PEDIGREE; PHENOTYPE; RECEPTORS, INTERLEUKIN; REVERSE TRANSCRIPTASE POLYMERASE CHAIN REACTION; SYNDROME;

MUS;

EID: 79958039496     PISSN: 00222593     EISSN: 14686244     Source Type: Journal    
DOI: 10.1136/jmg.2011.089631     Document Type: Article

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