Craniofacial abnormalities and developmental delay in two families with overlapping 22q12.1 microdeletions involving theMN1gene-Reference-Cited by-同舟云学术

Craniofacial abnormalities and developmental delay in two families with overlapping 22q12.1 microdeletions involving theMN1gene

Published:2015-03-21 Issue:5 Volume:167 Page:1047-1053
ISSN:1552-4825
Container-title:American Journal of Medical Genetics Part A
language:en
Short-container-title:Am. J. Med. Genet.

Author:

Beck Megan¹,Peterson Jess F.¹²,McConnell Juliann³,McGuire Marianne³,Asato Miya⁴,Losee Joseph E.⁵,Surti Urvashi¹²⁶⁷,Madan-Khetarpal Suneeta³,Rajkovic Aleksandar¹²⁶⁷,Yatsenko Svetlana A.²⁶⁷

Affiliation:

1. Department of Human Genetics; Graduate School of Public Health; University of Pittsburgh; Pittsburgh Pennsylvania

2. Pittsburgh Cytogenetics Laboratory; Center for Medical Genetics and Genomics; Magee-Womens Hospital of UPMC; Pittsburgh Pennsylvania

3. Department of Medical Genetics; Children's Hospital of Pittsburgh of UPMC; Pittsburgh Pennsylvania

4. Department of Pediatrics; Division of Child Neurology; Children's Hospital of Pittsburgh of UPMC; Pennsylvania

5. Division of Pediatric Plastic Surgery; Children's Hospital of Pittsburgh of UPMC; Pittsburgh Pennsylvania

6. Department of Obstetrics; Gynecology and Reproductive Sciences; University of Pittsburgh School of Medicine; Pittsburgh Pennsylvania

7. Department of Pathology; University of Pittsburgh School of Medicine; Pittsburgh Pennsylvania

Publisher

Wiley

Subject

Genetics(clinical),Genetics

Reference21 articles.

1. Constitutional de novo interstitial deletion of 8 Mb on chromosome 22q12. 1-12. 3 encompassing the neurofibromatosis type 2 (NF2) locus in a dysmorphic girl with severe malformations;Barbi;J Med Genet,2002

2. Cancer Risk in Persons with Oral Cleft—A Population-based Study of 8,093 Cases

3. Severe phenotype of neurofibromatosis type 2 in a patient with 7.4-MB constitutional deletion on chromosome 22: Possible localization of a neurofibromatosis type 2 modifier gene;Bruder;Genes Chromosomes Cancer,1999

4. High resolution deletion analysis of constitutional DNA from neurofibromatosis type 2 (NF2) patients using microarray-CGH;Bruder;Hum Mol Genet,2001

5. CHEK2 is a multiorgan cancer susceptibility gene;Cybulski;Am J Hum Genet,2004

Cited by 14 articles. 订阅此论文施引文献订阅此论文施引文献，注册后可以免费订阅5篇论文的施引文献，订阅后可以查看论文全部施引文献

1. Extensive, 3.8 Mb-Sized Deletion of 22q12 in a Patient with Bilateral Schwannoma, Intellectual Disability, Sensorineural Hearing Loss, and Epilepsy;Molecular Syndromology;2023

2. Diagnosis and treatment of MN1 C‐terminal truncation syndrome;Molecular Genetics & Genomic Medicine;2022-09-20

3. Novel truncating variant of MN1 penultimate exon identified in a Chinese patient with newly recognized MN1 C‐terminal truncation syndrome: Case report and literature review;International Journal of Developmental Neuroscience;2021-11-04

4. A Novel Pathogenic Variant in the MN1 Gene in a Patient Presenting with Rhombencephalosynapsis and Craniofacial Anomalies, Expanding MN1 C-terminal Truncation Syndrome;Journal of Pediatric Genetics;2021-04-14

5. Reply: MN1 gene loss-of-function mutation causes cleft palate in a pedigree;Brain;2020-12-22