Severe Unilateral Microtia with Aural Atresia, Hair White Patch, Stereotypes in a Young Boy with De novo 16p13.11 Deletion: Reasons for a New Genotype–Phenotype Correlation

Severe Unilateral Microtia with Aural Atresia, Hair White Patch, Stereotypes in a Young Boy with De novo 16p13.11 Deletion: Reasons for a New Genotype–Phenotype Correlation

Background Microtia is an uncommon congenital malformation ranging from mild anatomic structural abnormalities to partial or complete absence of the ear leading to hearing impairment. Congenital microtia may present as a single malformation (isolated microtia) or sometimes associated with...

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Bibliographic Details
Main Authors: Piero Pavone, Xena Giada Pappalardo, Claudia Parano, Enrico Parano, Antonio Corsello, Martino Ruggieri, Giovanni Cacciaguerra, Raffaele Falsaperla
Format: Article
Language:English
Published: Georg Thieme Verlag KG 2023-12-01
Series:Global Medical Genetics
Subjects:
case report
microtia
16p13.11 deletion
genotype–phenotype correlation
Online Access:http://www.thieme-connect.de/DOI/DOI?10.1055/s-0043-1777362

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http://www.thieme-connect.de/DOI/DOI?10.1055/s-0043-1777362

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