A novel MEIS2 mutation explains the complex phenotype in a boy with a typical NF1 microdeletion syndrome-Reference-Cited by-同舟云学术

A novel MEIS2 mutation explains the complex phenotype in a boy with a typical NF1 microdeletion syndrome

Published:2021-05 Issue:5 Volume:64 Page:104190
ISSN:1769-7212
Container-title:European Journal of Medical Genetics
language:en
Short-container-title:European Journal of Medical Genetics

Author:

Santoro Claudia^ORCID,Riccio Simona,Palladino Federica^ORCID,Aliberti Ferdinando,Carotenuto Marco,Zanobio Mariateresa^ORCID,Peduto Cristina^ORCID,Nigro Vincenzo,Perrotta Silverio^ORCID,Piluso Giulio^ORCID

Publisher

Elsevier BV

Subject

Genetics(clinical),Genetics,General Medicine

Reference24 articles.

1. Systematic analysis of copy number variants of a large cohort of orofacial cleft patients identifies candidate genes for orofacial clefts;Conte;Hum. Genet.,2016

2. Further evidence for the possible role of MEIS2 in the development of cleft palate and cardiac septum;Crowley;Am. J. Med. Genet.,2010

3. De novo missense variants in MEIS2 recapitulate the microdeletion phenotype of cardiac and palate abnormalities, developmental delay, intellectual disability and dysmorphic features;Douglas;Am. J. Med. Genet.,2018

4. Characterization of a 5.3 Mb deletion in 15q14 by comparative genomic hybridization using a whole genome "tiling path" BAC array in a girl with heart defect, cleft palate, and developmental delay;Erdogan;Am. J. Med. Genet.,2007

5. Intracytoplasmic sperm injection for male infertility and consequences for offspring;Esteves;Nat. Rev. Urol.,2018

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1. Neurofibromatosis Type 1: Pediatric Aspects and Review of Genotype–Phenotype Correlations;Cancers;2023-02-14

2. MEIS2 (15q14) gene deletions in siblings with mild developmental phenotypes and bifid uvula: documentation of mosaicism in an unaffected parent;Molecular Cytogenetics;2021-12

3. Classification of NF1 microdeletions and its importance for establishing genotype/phenotype correlations in patients with NF1 microdeletions;Human Genetics;2021-09-18