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Article

Homozygous indel mutation in CDH11 as the probable cause of Elsahy-Waters syndrome.

American journal of medical genetics. Part A - 1 Dec 2017

Taskiran Ekim Z, Karaosmanoglu Beren, Koşukcu Can, Doğan Özlem A, Taylan-Şekeroğlu Hande, Şimşek-Kiper Pelin Ö, Utine Eda G, Boduroğlu Koray, Alikaşifoğlu Mehmet

Abstract excerpt

Two sisters from a consanguineous couple were seen in genetics department for facial dysmorphic features and glaucoma. They both had broad foreheads, hypertelorism, megalocorneas, thick eyebrows with synophrys, flat malar regions, broad and bulbous noses, and mild prognathism. Both had glaucoma, younger one also had cataracts and phthisis bulbi. Other findings included bilateral partial cutaneous syndactyly of...

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Source

Identifiers

PMID: 28988429
DOI: 10.1002/ajmg.a.38495

Genes

CDH11

Variants

Provenance

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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