Infant with multiple congenital anomalies and deletion (9)(q34.3)
Author:
Publisher
Wiley
Subject
Genetics (clinical)
Reference10 articles.
1. Gross congenital abnormality associated with an apparently balanced chromosomal translocation t(9;17)(q34;q11)
2. Patients with deletions of 9q22q34 do not define a syndrome: three case reports and a literature review
3. Newborn infant with del(9)(pter→q32:) and multiple congenital anomalies including arrhinencephaly, cardiac malformations, and rudimentary ears
4. Chromosome survey of a hospital for the mentally subnormal Part 2: Autosome abnormalities
5. Schizophrenia and mental retardation in an adult male with a de novo interstitial deletion 9(q32q34.1).
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1. Absence of Endolymphatic Sac Ion Transport Proteins in Large Vestibular Aqueduct Syndrome—A Human Temporal Bone Study;Otology & Neurotology;2020-09-24
2. Shone’s complex in a patient with chromosome 9q34.3 deletion (Kleefstra syndrome);Cardiology in the Young;2018-12-26
3. Targeted next generation sequencing of a panel of autism-related genes identifies an EHMT1 mutation in a Kleefstra syndrome patient with autism and normal intellectual performance;Gene;2016-12
4. Severe neonatal presentation of Kleefstra syndrome in a patient with hypoplastic left heart syndrome and 9q34.3 microdeletion;Birth Defects Research Part A: Clinical and Molecular Teratology;2014-11-07
5. Deletions and Other Structural Abnormalities of the Autosomes;Emery and Rimoin's Principles and Practice of Medical Genetics;2013
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