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eRAM

encyclopedia of Rare Disease Annotation for Precision Medicine




Disease kennedy disease
Comorbidity C0162359|hypohidrotic ectodermal dysplasia
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PubMedID- 21332691 To study the molecular genetic cause of autosomal recessive hypohidrotic ectodermal dysplasia in three consanguineous pakistani families (a, b and c), genotyping of 13 individuals was carried out by using polymorphic microsatellite markers that are closely linked to the edar gene on chromosome 2q11-q13 and the edaradd gene on chromosome 1q42.2-q43.

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