Long-term follow-up case of 14q12 deletion syndrome: A case report-Reference-Cited by-同舟云学术

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Long-term follow-up case of 14q12 deletion syndrome: A case report

Published:2024-06 Issue:2 Volume:2 Page:100013
ISSN:2950-2217
Container-title:Brain and Development Case Reports
language:en
Short-container-title:Brain and Development Case Reports

Author:

Aihara Yu,Sumitomo Noriko,Shimizu-Motohashi Yuko^ORCID,Inoue Ken,Goto Yu-ichi,Komaki Hirofumi

Funder

National Center of Neurology and Psychiatry

Publisher

Elsevier BV

Reference21 articles.

1. Additional chromosomal abnormalities in patients with a previously detected abnormal karyotype, mental retardation, and dysmorphic features;Bisgaard;Am J Med Genet A,2006

2. A 3 mb deletion in 14q12 causes severe mental retardation, mild facial dysmorphisms and rett-like features;Papa;Am J Med Genet A,2008

3. Atypical rett syndrome with selective FOXG1 deletion detected by comparative genomic hybridization: case report and review of literature;Jacob;Eur J Hum Genet,2009

4. 14q12 microdeletion syndrome and congenital variant of rett syndrome;Mencarelli;Eur J Med Genet,2009

5. 14q12 microdeletions excluding FOXG1 give rise to a congenital variant rett syndrome-like phenotype;Ellaway;Eur J Hum Genet,2013

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