Features of Feingold syndrome 1 dominate in subjects with 2p deletions including MYCN-Reference-Cited by-同舟云学术

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Features of Feingold syndrome 1 dominate in subjects with 2p deletions including MYCN

Published:2018-08-08 Issue:9 Volume:176 Page:1956-1963
ISSN:1552-4825
Container-title:American Journal of Medical Genetics Part A
language:en
Short-container-title:Am J Med Genet

Author:

Burnside Rachel D.¹^ORCID,Molinari Sharon¹,Botti Christina²,Brooks Susan Sklower²,Chung Wendy K.³⁴,Mehta Lakshmi⁵,Schwartz Stuart¹,Papenhausen Peter¹

Affiliation:

1. Laboratory Corporation of America HoldingsCenter for Molecular Biology and Pathology, Research Triangle Park North Carolina

2. Division of Medical Genetics, Department of PediatricsRutgers‐Robert Wood Johnson Medical School New Brunswick New Jersey

3. Department of PediatricsColumbia University New York New York

4. Department of MedicineColumbia University New York New York

5. Department of Genetics and Genomic SciencesIcahn School of Medicine at Mount Sinai New York New York

Funder

Simons Foundation

Publisher

Wiley

Subject

Genetics(clinical),Genetics

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1002/ajmg.a.40355

Reference15 articles.

1. Familial Syndromic Esophageal Atresia Maps to 2p23-p24

2. A de novo 4.4-Mb microdeletion in 2p24.3 → p24.2 in a girl with bilateral hearing impairment, microcephaly, digit abnormalities and Feingold syndrome

3. Dissection of the MYCN locus in Feingold syndrome and isolated oesophageal atresia

4. DECIPHER: Database of Chromosomal Imbalance and Phenotype in Humans Using Ensembl Resources

5. MODED: Microcephaly-oculo-digito-esophageal-duodenal syndrome

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1. Feingold syndrome type 1: a rare cause of fetal microcephaly (prenatal diagnosis);BMJ Case Reports;2023-03

2. Fetal Hands: A Comprehensive Review of Prenatal Assessment and Diagnosis Over the Past 40 Years;Ultrasound in Medicine & Biology;2023-03

3. Investigation of Submicroscopic Chromosomal Anomalies on Patients with Unexplained Intellectual Disabilities with Molecular Karyotyping;Gazi Medical Journal;2022-10-01

4. A new variant of MYCN gene as a cause of Feingold syndrome;Clinical Case Reports;2022-05

5. Genome sequencing identifies three molecular diagnoses including a mosaic variant in the COL2A1 gene in an individual with Pol III–related leukodystrophy and Feingold syndrome;Molecular Case Studies;2021-11-04

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