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Article

A newly identified missense mutation of the EDA1 gene in a Hungarian patient with Christ-Siemens-Touraine syndrome.

Archives of dermatological research - 1 Jan 2014

Kinyó Agnes, Vályi Péter, Farkas Katalin, Nagy Nikoletta, Gergely Brigitta, Tripolszki Kornélia, Török Dóra, Bata-Csörgő Zsuzsanna, Kemény Lajos, Széll Márta

Abstract excerpt

Christ-Siemens-Touraine syndrome (CST; OMIM 305100) belongs to the group of ectodermal dysplasias and is characterized by the development of sparse hair, abnormal or missing teeth and sweating deficiency. CST is the consequence of mutations located in the ectodysplasin A (EDA1) gene. We have iden...

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PMID: 23989902
DOI: 10.1007/s00403-013-1408-8

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TNF

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 4 Sept 2026. Prepared record publication-23989902-2026-09-04.2. Manifest publication-graph-cohort-2026-09-04.2.

Source receipt: PubMed via Helena Literature Corpus, retrieved 4 Sept 2026.

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