A new case of 8q22.1 microdeletion restricts the critical region for Nablus mask-like facial syndrome-Reference-Cited by-同舟云学术

A new case of 8q22.1 microdeletion restricts the critical region for Nablus mask-like facial syndrome

Published:2012-12-13 Issue:1 Volume:161 Page:162-165
ISSN:1552-4825
Container-title:American Journal of Medical Genetics Part A
language:en
Short-container-title:Am. J. Med. Genet.

Author:

Debost-Legrand Anne,Eymard-Pierre Eleonore,Pebrel-Richard Céline,Gouas Laetitia,Goumy Carole,Giollant Michel,Ayed Wiem,Tchirkov Andreï,Francannet Christine,Vago Philippe

Publisher

Wiley

Subject

Genetics (clinical),Genetics

Link

http://onlinelibrary.wiley.com/wol1/doi/10.1002/ajmg.a.35614/fullpdf

Reference8 articles.

1. A case of 8q22.1 microdeletion without the Nablus mask-like facial syndrome phenotype;Jain;Eur J Med Genet,2010

2. Mutant CHUK and severe fetal encasement malformation;Lahtela;N Engl J Med,2010

3. Prokaryotic expression, purification of a new tumor-relative protein FAM92A1-289 and its characterization in renal cell carcinoma;Liang;Cancer Lett,2009

4. The 8q22.1 microdeletion syndrome or Nablus mask-like facial syndrome: Report on two patients and review of the literature;Raas-Rothschild;Eur J Med Genet,2009

5. Identification and characterization of two novel variants of the DUF1208 protein FAM92A1;Ruan;Mol Cells,2007

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1. Membrane remodeling by FAM92A1 during brain development regulates neuronal morphology, synaptic function, and cognition;Nature Communications;2024-07-23

2. Nablus mask‐like facial syndrome: Report of an atypical case with 8q21.3–q22.1 deletion;American Journal of Medical Genetics Part A;2024-07-22

3. Intraoral findings of a patient with Nablus mask-like facial syndrome and dental treatment approaches: a case report and literature review;Journal of Clinical Pediatric Dentistry;2023

4. BARMR1/FAM92A1, a novel gene encoding BAR domain protein with multi-functions;Gene;2021-01

5. Nablus Mask-Like Facial Syndrome with Moderate Developmental Delay;The Eurasian Journal of Medicine;2020-06-18