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Article

A novel mutation in CDH11, encoding cadherin-11, cause Branchioskeletogenital (Elsahy-Waters) syndrome.

American journal of medical genetics. Part A - 1 Sept 2018

Castori Marco, Ott Claus-Eric, Bisceglia Luigi, Leone Maria Pia, Mazza Tommaso, Castellana Stefano, Tomassi Jurgen, Lanciotti Silvia, Mundlos Stefan, Hennekam Raoul C, Kornak Uwe, Brancati Francesco

Abstract excerpt

Cadherins are cell-adhesion molecules that control morphogenesis, cell migration, and cell shape changes during multiple developmental processes. Until now four distinct cadherins have been implicated in human Mendelian disorders, mainly featuring skin, retinal and hearing manifestations. Branchio-skeleto-genital (or Elsahy-Waters) syndrome (BSGS) is an ultra-rare condition featuring a characteristic face,...

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PMID: 30194892
DOI: 10.1002/ajmg.a.40379

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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