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Article

Ectrodactyly-ectodermal dysplasia-clefting syndrome presenting with bilateral choanal atresia and rectal stenosis.

American journal of medical genetics. Part A - 1 Aug 2020

Childs Alexandra J, Mabin David C, Turnpenny Peter D

Abstract excerpt

We present the case of a male who shortly after birth developed acute respiratory distress due to bilateral choanal atresia, following which he was found to have rectal stenosis. Genetic testing for CHARGE syndrome was negative, but whole genome sequencing identified heterozygosity for a pathogenic missense variant in TP63 (c.727C > T, p.(Arg243Trp). He also has partial cutaneous syndactyly of the third and...

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Share to CHARGE Syndrome
Share to Cleft Lip
Share to Cleft Palate

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Constriction, Pathologic

Share to Ectodermal Dysplasia

Share to Hand Deformities, Congenital

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Identifiers

PMID: 32476291
DOI: 10.1002/ajmg.a.61628

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