Ectrodactyly‐ectodermal dysplasia‐clefting syndrome presenting with bilateral choanal atresia and rectal stenosis
Author:
Affiliation:
1. Department of PaediatricsRoyal Devon and Exeter NHS Foundation Trust Exeter UK
2. University of Exeter Exeter UK
3. Clinical Genetics, Royal Devon & Exeter NHS Foundation Trust Exeter UK
Publisher
Wiley
Subject
Genetics (clinical),Genetics
Link
https://onlinelibrary.wiley.com/doi/pdf/10.1002/ajmg.a.61628
Reference23 articles.
1. Exon-level array CGH in a large clinical cohort demonstrates increased sensitivity of diagnostic testing for Mendelian disorders
2. Two case reports with literature review of the EEC syndrome: Clinical presentation and management
3. A newborn with overlapping features of AEC and EEC syndromes
4. Heterozygous Germline Mutations in the p53 Homolog p63 Are the Cause of EEC Syndrome
5. Choanal atresia as a feature of ectrodactyly-ectodermal dysplasia-clefting (EEC) syndrome.
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1. Lacrimal Drainage Anomalies in Goldenhar, Rubinstein-Taybi, and Ectodermal-Ectrodactyly-Clefting Syndromes;Seminars in Ophthalmology;2024-05-22
2. Management of Choanal Atresia: National Recommendations with a Comprehensive Literature Review;Children;2023-01-02
3. Updates on congenital lacrimal drainage anomalies and their association with syndromes and systemic disorders: A major review;Annals of Anatomy - Anatomischer Anzeiger;2021-01
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