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NR2F1 Deletion in a Patient with a de novo Paracentric Inversion, inv(5)(q15q33.2), and Syndromic Deafness

In an effort to discover genes important for human development, we have ascertained patients with congenital anomalies and cytogenetically balanced chromosomal rearrangements. Herein, we report a four year-old girl with profound deafness, a history of feeding difficulties, dysmorphism, strabismus, d...

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Bibliografiske detaljer
Main Authors: Brown, Kerry K., Alkuraya, Fowzan S., Matos, Michael, Robertson, Richard L., Kimonis, Virginia E., Morton, Cynthia C.
Format: Artigo
Sprog:Inglês
Udgivet: 2009
Fag:
Online adgang:https://ncbi.nlm.nih.gov/pmc/articles/PMC2777524/
https://ncbi.nlm.nih.gov/pubmed/19353646
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/ajmg.a.32764
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