A familial 7q36.3 duplication associated with agenesis of the corpus callosum-Reference-Cited by-同舟云学术

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A familial 7q36.3 duplication associated with agenesis of the corpus callosum

Published:2015-05-05 Issue:9 Volume:167 Page:2201-2208
ISSN:1552-4825
Container-title:American Journal of Medical Genetics Part A
language:en
Short-container-title:Am. J. Med. Genet.

Author:

Wong Keith¹,Moldrich Randal²,Hunter Matthew¹³,Edwards Matthew⁴,Finlay David⁵,O'Donnell Sheridan³,MacDougall Tom⁶,Bain Nicole⁷,Kamien Benjamin¹³

Affiliation:

1. The University of Newcastle; School of Medicine and Public Health; Newcastle New South Wales Australia

2. The University of Queensland; The UQ Centre for Clinical Research; Brisbane Queensland Australia

3. Hunter Genetics; Newcastle New South Wales Australia

4. Paediatrics, School of Medicine; University of Western Sydney; Sydney New South Wales Australia

5. Faculty of Science, Technology, and Engineering; LaTrobe University; Bundoora Victoria Australia

6. Department of Radiology; John Hunter Hospital; Newcastle New South Wales Australia

7. Hunter Area Pathology Service (HAPS); John Hunter Hospital; Newcastle New South Wales Australia

Publisher

Wiley

Subject

Genetics (clinical),Genetics

Link

http://onlinelibrary.wiley.com/wol1/doi/10.1002/ajmg.a.37143/fullpdf

Reference40 articles.

1. Sonic hedgehog and Wnt: Antagonists in morphogenesis but collaborators in axon guidance;Aviles;Front Cell Neurosci,2013

2. Anomalies of the corpus callosum: Correlation with further anomalies of the brain;Barkovich;AJR Am J Roentgenol,1988

3. Evidence for SHH as a candidate gene for encephalocele;Bear;Clin Dysmorphol,2012

4. Array-CGH analysis indicates a high prevalence of genomic rearrangements in holoprosencephaly: An updated map of candidate loci;Bendavid;Hum Mutat,2009

5. Holoprosencephaly due to mutations in ZI C2: Alanine tract expansion mutations may be caused by parental somatic recombination;Brown;Hum Mol Genet,2001

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1. Truncating variants of the sterol recognition region of SHH cause hypertelorism phenotype rather than hypotelorism‐holoprosencephaly;American Journal of Medical Genetics Part A;2024-04-02

2. Prenatal diagnosis and genetic counselling of a maternally inherited chromosome 7q36.3 duplication with normal phenotype in a Chinese family;Taiwanese Journal of Obstetrics and Gynecology;2024-03

3. Genetic findings of children with congenital heart diseases using chromosome microarray and trio-based whole exome sequencing;2024-02-22

4. Pathogenic/likely pathogenic copy number variations and regions of homozygosity in fetal central nervous system malformations;Archives of Gynecology and Obstetrics;2022-12-05

5. A familial Sonic Hedgehog (SHH) stop-gain mutation associated with agenesis of the corpus callosum, mild intellectual disability and facial dysmorphism;Brain and Development;2020-11

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