MEIS2sequence variant in a child with intellectual disability and cardiac defects: Expansion of the phenotypic spectrum and documentation oflow‐levelmosaicism in an unaffected parent-Reference-Cited by-同舟云学术

MEIS2sequence variant in a child with intellectual disability and cardiac defects: Expansion of the phenotypic spectrum and documentation oflow‐levelmosaicism in an unaffected parent

Published:2020-10-22 Issue:1 Volume:185 Page:300-303
ISSN:1552-4825
Container-title:American Journal of Medical Genetics Part A
language:en
Short-container-title:Am J Med Genet

Author:

Su Julia X.¹,Velsher Lea S.¹²,Juusola Jane³,Nezarati Marjan M.¹⁴^ORCID

Affiliation:

1. Genetics Program, North York General Hospital Toronto Canada

2. Department of Laboratory Medicine University of Toronto Toronto Canada

3. GeneDx Gaithersburg Maryland USA

4. Department of Paediatrics University of Toronto Toronto Canada

Publisher

Wiley

Subject

Genetics(clinical),Genetics

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1002/ajmg.a.61929

Reference13 articles.

1. Mutations in DYNC2H1 , the cytoplasmic dynein 2, heavy chain 1 motor protein gene, cause short-rib polydactyly type I, Saldino-Noonan type

2. 47,XYY Syndrome: Clinical Phenotype and Timing of Ascertainment

3. XYY WITH ABNORMAL GENITALIA

4. De novo missense variants in MEIS2 recapitulate the microdeletion phenotype of cardiac and palate abnormalities, developmental delay, intellectual disability and dysmorphic features

5. 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

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1. Transcription factor Meis1b regulates craniofacial morphogenesis in zebrafish;Developmental Dynamics;2024-08

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