Phenotypic variability in patients with interstitial 6q21-q22 microdeletion and Acro-Cardio-Facial syndrome-Reference-Cited by-同舟云学术

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Phenotypic variability in patients with interstitial 6q21-q22 microdeletion and Acro-Cardio-Facial syndrome

Published:2016-05-18 Issue:11 Volume:170 Page:2998-3003
ISSN:1552-4825
Container-title:American Journal of Medical Genetics Part A
language:en
Short-container-title:Am. J. Med. Genet.

Author:

Shukla Anju¹,Hebbar Malavika¹,Harms Frederike L.²,Kadavigere Rajagopal³,Girisha Katta M.¹,Kutsche Kerstin²

Affiliation:

1. Department of Medical Genetics; Kasturba Medical College; Manipal University; Manipal Karnataka India

2. Institute of Human Genetics; University Medical Center Hamburg-Eppendorf; Hamburg Germany

3. Department of Radiodiagnosis; Kasturba Medical College; Manipal University; Manipal Karnataka India

Funder

Deutsche Forschungsgemeinschaft (DFG)

Publisher

Wiley

Subject

Genetics(clinical),Genetics

Link

http://onlinelibrary.wiley.com/wol1/doi/10.1002/ajmg.a.37759/fullpdf

Reference11 articles.

1. Expanding the phenotype associated with 17q12 duplication: Case report and review of the literature;Bierhals;Am J Med Genet Part A,2013

2. Acro-cardio-facial syndrome;Digilio;Orphanet J Rare Dis,2010

3. An autosomal recessive syndrome of cleft palate, cardiac defect, genital anomalies, and ectrodactyly (CCGE);Giannotti;J Med Genet,1995

4. Phenotypic heterogeneity of genomic disorders and rare copy-number variants;Girirajan;N Engl J Med,2012

5. Confirmation of 6q21-6q22.1 deletion in acro-cardio-facial syndrome and further delineation of this contiguous gene deletion syndrome;Hudson;Am J Med Genet Part A,2014

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1. Novel copy number variations and phenotypes of infantile epileptic spasms syndrome;Clinical Genetics;2024-03-28

2. Case report: A new de novo 6q21q22.1 interstitial deletion case in a girl with cerebellar vermis hypoplasia and developmental delay and literature review;Frontiers in Genetics;2024-02-06

3. Interstitial deletions in the proximal regions of 6q: 12 original cases and a literature review;Intractable & Rare Diseases Research;2022-08-31

4. Recurrent de novo pathogenic variant of WASF1 in a Japanese patient with neurodevelopmental disorder with absent language and variable seizures;Human Genome Variation;2021-11-29

5. Less common underlying genetic diagnoses found in a cohort of 139 individuals surgically corrected for craniosynostosis;American Journal of Medical Genetics Part A;2017-11-21

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