Hearing loss, cleft palate, and congenital hip dysplasia in female carriers of an intragenic deletion of AMMECR1

Previously, mutations in the AMMECR1 gene have been described in six males with developmental delay, sensorineural hearing loss (SNHL) and/or congenital abnormalities, including fetal nuchal edema, fetal pericardial effusion, talipes, congenital hip dysplasia, elliptocytosis and cleft palate. In thi...

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Detalles Bibliográficos
Autores principales: Koene, Saskia, Knijnenburg, Jeroen, Hoffer, Mariette J. V., Zwanenburg, Fleur, Haak, Monique C., Locher, Heiko, van Beelen, Edward S. A., Santen, Gijs W. E., Rotteveel, Liselotte J. C.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley & Sons, Inc. 2022
Materias:
Case Reports
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9305766/
https://www.ncbi.nlm.nih.gov/pubmed/35084080
http://dx.doi.org/10.1002/ajmg.a.62669

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