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Kabuki Syndrome Latest Advances
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Last Updated: 01/20/2023
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Found 4 publications
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Analysis of clinical manifestation and a mosaic frameshift variant of the KMT2D gene in a Chinese patient with Kabuki syndrome.
Journal:
Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics
Published:
September 06, 2021
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Characteristics and surgical outcomes of cleft palate in kabuki syndrome: a case series of 11 patients.
Condition:
Cleft Palate (CP) in Kabuki Syndrome (KS)
Journal:
BMC pediatrics
Treatment Used:
Surgery
Number of Patients:
11
Published:
September 04, 2021
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Treatment and genetic analysis of a child with Kabuki syndrome type 2 and secondary pulmonary infection due to a de novo variant of KDM6A gene.
Journal:
Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics
Published:
July 11, 2021
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Bonebridge implantation for mixed hearing loss in a patient with Kabuki syndrome.
Condition:
Kabuki Syndrome
Journal:
Acta bio-medica : Atenei Parmensis
Treatment Used:
Bonebridge Implantation
Number of Patients:
1
Published:
September 14, 2020
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Showing 1-4 of 4
Last Updated: 01/20/2023