Homozygous deletion of 21q22.2 in a patient with hypotonia, developmental delay, cortical visual impairment, and retinopathy-Reference-Cited by-同舟云学术

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Homozygous deletion of 21q22.2 in a patient with hypotonia, developmental delay, cortical visual impairment, and retinopathy

Published:2020-11-10 Issue:2 Volume:185 Page:555-560
ISSN:1552-4825
Container-title:American Journal of Medical Genetics Part A
language:en
Short-container-title:Am J Med Genet

Author:

Hildebrandt Clara¹^ORCID,Fulton Anne²,Rodan Lance H.³^ORCID

Affiliation:

1. Medical Biochemical Fellowship at Boston Children's Hospital Boston Massachusetts USA

2. Department of Ophthalmology Boston Children's Hospital Boston Massachusetts USA

3. Department of Genetics and Genomics Boston Children's Hospital Boston Massachusetts USA

Publisher

Wiley

Subject

Genetics(clinical),Genetics

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1002/ajmg.a.61969

Reference44 articles.

1. MS imaging and mass spectrometric synaptosome profiling identify PEP-19/pcp4 as a synaptic molecule involved in spatial learning in mice

2. NMDA‐mediated regulation of DSCAM dendritic local translation is lost in a mouse model of Down's syndrome;Alves‐Sampaio A.;Journal of Neuroscience,2010

3. Down syndrome;Antonarakis S. E.;Nature Reviews. Disease Primers,2020

4. DSCAM: an endogenous promoter drives expression in the developing CNS and neural crest

5. DSCAM promotes axon fasciculation and growth in the developing optic pathway

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1. Dandy–Walker malformation in an individual with ABL1 variant;American Journal of Medical Genetics Part A;2024-05-17

2. Competing Endogenous RNAs Crosstalk in Hippocampus: A Potential Mechanism for Neuronal Developing Defects in Down Syndrome;Journal of Molecular Neuroscience;2024-03-27

3. Homozygous 22q11.2 distal type II microdeletion is associated with syndromic neurodevelopmental delay;American Journal of Medical Genetics Part A;2023-06-27

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