A 3.7 Mb deletion encompassing ZEB2 causes a novel polled and multisystemic syndrome in the progeny of a somatic mosaic bull

Polled and Multisystemic Syndrome (PMS) is a novel developmental disorder occurring in the progeny of a single bull. Its clinical spectrum includes polledness (complete agenesis of horns), facial dysmorphism, growth delay, chronic diarrhea, premature ovarian failure, and variable neurological and ca...

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Veröffentlicht in:	PloS one 2012-11, Vol.7 (11), p.e49084
Hauptverfasser:	Capitan, Aurélien, Allais-Bonnet, Aurélie, Pinton, Alain, Marquant-Le Guienne, Brigitte, Le Bourhis, Daniel, Grohs, Cécile, Bouet, Stéphan, Clément, Laëtitia, Salas-Cortes, Laura, Venot, Eric, Chaffaux, Stéphane, Weiss, Bernard, Delpeuch, Arnaud, Noé, Guy, Rossignol, Marie-Noëlle, Barbey, Sarah, Dozias, Dominique, Cobo, Emilie, Barasc, Harmonie, Auguste, Aurélie, Pannetier, Maëlle, Deloche, Marie-Christine, Lhuilier, Emeline, Bouchez, Olivier, Esquerré, Diane, Salin, Gérald, Klopp, Christophe, Donnadieu, Cécile, Chantry-Darmon, Céline, Hayes, Hélène, Gallard, Yves, Ponsart, Claire, Boichard, Didier, Pailhoux, Eric
Format:	Artikel
Sprache:	eng
Schlagworte:	Abnormalities, Multiple - genetics Abnormalities, Multiple - pathology Abnormalities, Multiple - veterinary Agricultural sciences Analysis Animal genetic engineering Animals Base Pairing - genetics Bovidae Cattle Cattle Diseases - genetics Cattle Diseases - pathology Chromosome 2 Chromosome deletion Chromosome Mapping Developmental disabilities Diarrhea DNA sequencing Female Fetus - abnormalities Fetus - pathology Fetuses Gene expression Gene mapping Gene regulation Gene sequencing Genes Genomes Genomics Genotyping Gestation Heart diseases Heterozygosity Horns Horns - pathology Humans Inheritance Patterns - genetics Intellectual disabilities Lethality Life Sciences Loci Loss of heterozygosity Male Males Medicine Mesenchyme Mosaicism Mutation Mutation - genetics New records Offspring Pathogenicity Pathogens Pregnancy Progeny Public opinion Real-Time Polymerase Chain Reaction Repressor Proteins - genetics Repressor Proteins - metabolism Reproductive status Sequence Deletion - genetics Sex Sex ratio Skin - pathology Syndrome Veterinary Science
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