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Article

Detection of de novo mutations and analysis of their origin in families with X linked hypohidrotic ectodermal dysplasia.

Journal of medical genetics - 1 Apr 1994

Zonana J, Jones M, Clarke A, Gault J, Muller B, Thomas N S

Abstract excerpt

Hypohidrotic ectodermal dysplasia (EDA) has been localised to the q12-q13.1 region of the X chromosome by both physical and genetic mapping methods. Although linkage analysis using closely linked flanking markers can clarify the carrier status for many females at risk for the disorder, knowledge of the origin of the mutation in instances of possible de novo mutation is critical for accurate genetic counselling of...

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Identifiers

PMID: 8071953
DOI: 10.1136/jmg.31.4.287
PMCID: PMC1049800

Genes

EDA

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