Otopathology in Kleefstra Syndrome: A Case Report-Reference-Cited by-同舟云学术

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Otopathology in Kleefstra Syndrome: A Case Report

Published:2019-11-21 Issue:8 Volume:130 Page:2028-2033
ISSN:0023-852X
Container-title:The Laryngoscope
language:en
Short-container-title:The Laryngoscope

Author:

Okayasu Tadao¹²,Quesnel Alicia M.¹²,Reinshagen Katherine L.³,Nadol Joseph B.¹²^ORCID

Affiliation:

1. Otopathology Laboratory, Department of Otolaryngology–Head and Neck Surgery Massachusetts Eye and Ear Boston Massachusetts

2. Department of Otolaryngology–Head and Neck Surgery Harvard Medical School Boston Massachusetts

3. Department of Radiology Massachusetts Eye and Ear, Harvard Medical School Boston Massachusetts U.S.A.

Publisher

Wiley

Subject

Otorhinolaryngology

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1002/lary.28380

Reference15 articles.

1. Update on Kleefstra syndrome;Willemsen MH;Mol Syndromol,2012

2. New Insights into Kleefstra Syndrome: Report of Two Novel Cases with Previously Unreported Features and Literature Review

3. A report of a child with a deletion (9)(q34.3): a recognisable phenotype?

4. A patient with 9q subtelomeric deletion syndrome with additional findings;Tug E;Genet Couns,2012

Cited by 6 articles. 订阅此论文施引文献订阅此论文施引文献，注册后可以免费订阅5篇论文的施引文献，订阅后可以查看论文全部施引文献

1. The first Brazilian clinical report of Kleefstra syndrome, including semicircular canals agenesis as a possible phenotype expansion;European Journal of Medical Genetics;2024-10

2. Incomplete Partition Type II Cochlear Malformations: Delineating the Three-Dimensional Structure from Digitized Human Histopathological Specimens;Otology & Neurotology;2023-08-23

3. Kleefstra Syndrome with Severe Sensory Neural Deafness and <em>De Novo</em> Novel Mutation;Journal of the College of Physicians and Surgeons Pakistan;2022-02-01

4. Kleefstra syndrome: Recurrence in siblings due to a paternal mosaic mutation;American Journal of Medical Genetics Part A;2021-08-06

5. Quando il disturbo del neurosviluppo ha un substrato genetico: un caso di sindrome di Kleefstra;Medico e Bambino pagine elettroniche;2021-04-30

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