Α de novo 3.8-Mb inversion affecting the EDA and XIST genes in a heterozygous female calf with generalized hypohidrotic ectodermal dysplasia

Α de novo 3.8-Mb inversion affecting the EDA and XIST genes in a heterozygous female calf with generalized hypohidrotic ectodermal dysplasia

Abstract Background In mammals, hypohidrotic ectodermal dysplasia (HED) is a genetic disorder that is characterized by sparse hair, tooth abnormalities, and defects in cutaneous glands. Only four genes, EDA, EDAR, EDARADD and WNT10A account for more than 90% of HED cases, and EDA, on chromosome X, i...

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Bibliographic Details
Main Authors: Clémentine Escouflaire, Emmanuelle Rebours, Mathieu Charles, Sébastien Orellana, Margarita Cano, Julie Rivière, Cécile Grohs, Hélène Hayes, Aurélien Capitan
Format: Article
Language:English
Published: BMC 2019-09-01
Series:BMC Genomics
Subjects:
Hypohidrotic ectodermal dysplasia
EDA
XIST
Whole-genome sequencing
Holstein
Cattle
Online Access:http://link.springer.com/article/10.1186/s12864-019-6087-1

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