14q12q13.3 Deletion Diagnosed Using Chromosomal Microarray Analysis in an Infant Showing Seizures, Hypoplasia of the Corpus Callosum, and Developmental Delay-Reference-Cited by-同舟云学术

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14q12q13.3 Deletion Diagnosed Using Chromosomal Microarray Analysis in an Infant Showing Seizures, Hypoplasia of the Corpus Callosum, and Developmental Delay

Published:2020-11-30 Issue:4 Volume:27 Page:207-213
ISSN:2287-9412
Container-title:Neonatal Medicine
language:en
Short-container-title:Neonatal Med

Author:

Kwon Jae Hyuk^ORCID,Song Young Hwa,Yoon Jung Min,Cheon Eun Jung,Ko Kyung Ok,Lim Jae Woo,Kim Hyon J.^ORCID

Funder

Korean Foundation for Rare Disease

Publisher

The Korean Society of Neonatology

Subject

Pharmacology (medical),Complementary and alternative medicine,Pharmaceutical Science

Link

http://neo-med.org/upload/pdf/nm-2020-27-4-207.pdf

Reference19 articles.

1. 14q12q13.2 microdeletion syndrome: Clinical characterization of a new patient, review of the literature, and further evidence of a candidate region for CNS anomalies

2. Further delineation of the phenotype of chromosome 14q13 deletions: (positional) involvement ofFOXG1appears the main determinant of phenotype severity, with no evidence for a holoprosencephaly locus

3. Chromosomal microarray (CMA) analysis in infants with congenital anomalies: when is it really helpful?

4. Consensus Statement: Chromosomal Microarray Is a First-Tier Clinical Diagnostic Test for Individuals with Developmental Disabilities or Congenital Anomalies

5. Etiology and Clinical Presentation of Birth Defects: Population Based Study

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