TSPEAR variants are primarily associated with ectodermal dysplasia and tooth agenesis but not hearing loss: A novel cohort study

Biallelic loss‐of‐function variants in the thrombospondin‐type laminin G domain and epilepsy‐associated repeats (TSPEAR) gene have recently been associated with ectodermal dysplasia and hearing loss. The first reports describing a TSPEAR disease association identified this gene is a cause of nonsynd...

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Veröffentlicht in:	American journal of medical genetics. Part A 2021-08, Vol.185 (8), p.2417-2433
Hauptverfasser:	Bowles, Bradley, Ferrer, Alejandro, Nishimura, Carla J., Pinto e Vairo, Filippo, Rey, Tristan, Leheup, Bruno, Sullivan, Jennifer, Schoch, Kelly, Stong, Nicholas, Agolini, Emanuele, Cocciadiferro, Dario, Williams, Abigail, Cummings, Alex, Loddo, Sara, Genovese, Silvia, Roadhouse, Chelsea, McWalter, Kirsty, Wentzensen, Ingrid M., Li, Chumei, Babovic‐Vuksanovic, Dusica, Lanpher, Brendan C., Dentici, Maria Lisa, Ankala, Arun, Hamm, J. Austin, Dallapiccola, Bruno, Radio, Francesca Clementina, Shashi, Vandana, Gérard, Benedicte, Bloch‐Zupan, Agnes, Smith, Richard J., Klee, Eric W.
Format:	Artikel
Sprache:	eng
Schlagworte:	Alleles Amino Acid Substitution Anodontia - diagnosis Anodontia - genetics autosomal recessive deafness Cohort analysis Cohort Studies Dysplasia ectodermal dysplasia Ectodermal Dysplasia - diagnosis Ectodermal Dysplasia - genetics Epilepsy Female Genetic Association Studies Genetic Loci Genetic screening Genetic Variation Genetics Genotypes Hearing loss Hearing protection Humans Laminin Life Sciences Male Mutation Original Pedigree Phenotype Phenotypes Proteins - genetics Radiography Thrombospondin tooth agenesis TSPEAR
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