A novel homozygous AP4B1 mutation in two brothers with AP‐4 deficiency syndrome and ocular anomalies-Reference-Cited by-同舟云学术

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A novel homozygous AP4B1 mutation in two brothers with AP‐4 deficiency syndrome and ocular anomalies

Published:2018-02-12 Issue:4 Volume:176 Page:985-991
ISSN:1552-4825
Container-title:American Journal of Medical Genetics Part A
language:en
Short-container-title:Am J Med Genet

Author:

Accogli Andrea¹²^ORCID,Hamdan Fadi F.³,Poulin Chantal¹⁴,Nassif Christina³,Rouleau Guy A.⁵,Michaud Jacques L.³⁶,Srour Myriam¹⁴

Affiliation:

1. Department of PediatricsMcGill UniversityMontrealCanada

2. Istituto Giannina GasliniGenovaItaly

3. CHU Sainte‐Justine Research CenterMontréalCanada

4. Department of Neurology and NeurosurgeryMcGill UniversityMontrealCanada

5. Montreal Neurological InstituteMcGill UniversityMontrealCanada

6. Departments of Pediatrics and NeurosciencesUniversité de MontréalMontrealCanada

Publisher

Wiley

Subject

Genetics (clinical),Genetics

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1002/ajmg.a.38628

Reference23 articles.

1. An AP4B1 frameshift mutation in siblings with intellectual disability and spastic tetraplegia further delineates the AP-4 deficiency syndrome

2. Adaptor Protein Complex 4 Deficiency Causes Severe Autosomal-Recessive Intellectual Disability, Progressive Spastic Paraplegia, Shy Character, and Short Stature

3. Mutation in the AP4B1 gene cause hereditary spastic paraplegia type 47 (SPG47)

4. A new locus (SPG47) maps to 1p13.2–1p12 in an Arabic family with complicated autosomal recessive hereditary spastic paraplegia and thin corpus callosum

5. Hereditary spastic paraplegia: clinico-pathologic features and emerging molecular mechanisms

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1. Combined generalized and focal epilepsy with reflex features in Adaptor protein complex 4-associated hereditary spastic paraplegias: A cohort observational study;Seizure: European Journal of Epilepsy;2024-10

2. An Ultra-Rare Mixed Phenotype with Combined AP-4 and ERF Mutations: The First Report in a Pediatric Patient and a Literature Review;Genes;2024-03-29

3. Lymphocytic choriomeningitis arenavirus requires cellular COPI and AP-4 complexes for efficient replication and virion production;2023-06-27

4. Horner’s Syndrome and Lymphocele Following Thyroid Surgery;Journal of Clinical Medicine;2023-01-06

5. AP4B1-associated hereditary spastic paraplegia: Expansion of clinico-genetic phenotype and geographic range;European Journal of Medical Genetics;2022-11

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