Scholar : Myringotomy and tubes - νέα αποτελέσματα

Delineating the Clinical Spectrum Associated With Xq25q26. 2 Duplications: Report of 2 Families and Review of the Literature

JC Herriges, EM Arch, PA Burgio, EE Baldwin… - Journal of Child Neurology, 2018

To date, 13 patients with interstitial microduplications involving Xq25q26.2 have been
reported. Here, we report 6 additional patients from 2 families with dupl...

Infant male with TARP syndrome: Review of clinical features, prognosis, and commonalities with previously reported patients

KE Kaeppler, RC Stetson, BC Lanpher, CA Collura - American Journal of Medical …, 2018

… G‐tube dependent, gastric fundoplication, TOF repair. Patient 7 (Johnston et al., 2014),
c.2176C>T/p.Arg726X—not present in mother, 14 months, Respiratory failure,
G‐tube, bilateral myringotomy. Patient 8 (Gripp et al., 2011), c …

 

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