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Abnormal cellular phenotype

MedGen UID:
1369113
•Concept ID:
C4476724
•
Cell or Molecular Dysfunction
HPO: HP:0025354

Definition

An anomaly of cellular morphology or physiology. [from HPO]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVAbnormal cellular phenotype

Professional guidelines

PubMed

Chromosome 22q11.2 Deletion (DiGeorge Syndrome): Immunologic Features, Diagnosis, and Management.
Biggs SE, Gilchrist B, May KR
Curr Allergy Asthma Rep 2023 Apr;23(4):213-222. Epub 2023 Mar 10 doi: 10.1007/s11882-023-01071-4. PMID: 36897497Free PMC Article
Fragile X syndrome: clinical presentation, pathology and treatment.
Salcedo-Arellano MJ, Hagerman RJ, Martínez-Cerdeño V
Gac Med Mex 2020;156(1):60-66. doi: 10.24875/GMM.19005275. PMID: 32026885
Congenital myasthenic syndromes: pathogenesis, diagnosis, and treatment.
Engel AG, Shen XM, Selcen D, Sine SM
Lancet Neurol 2015 Apr;14(4):420-34. doi: 10.1016/S1474-4422(14)70201-7. PMID: 25792100Free PMC Article

Recent clinical studies

Etiology

Cockayne syndrome type II in a Druze isolate in Northern Israel in association with an insertion mutation in ERCC6.
Falik-Zaccai TC, Laskar M, Kfir N, Nasser W, Slor H, Khayat M
Am J Med Genet A 2008 Jun 1;146A(11):1423-9. doi: 10.1002/ajmg.a.32309. PMID: 18446857

Diagnosis

Extracellular vesicles and COPD: foe or friend?
Wu J, Ma Y, Chen Y
J Nanobiotechnology 2023 May 5;21(1):147. doi: 10.1186/s12951-023-01911-5. PMID: 37147634Free PMC Article

Therapy

A trial of recombinant human superoxide dismutase in patients with Fanconi anaemia.
Liu JM, Auerbach AD, Anderson SM, Green SW, Young NS
Br J Haematol 1993 Oct;85(2):406-8. doi: 10.1111/j.1365-2141.1993.tb03186.x. PMID: 8280614

Clinical prediction guides

Fibroblast phenotype in male carriers of FMR1 premutation alleles.
Garcia-Arocena D, Yang JE, Brouwer JR, Tassone F, Iwahashi C, Berry-Kravis EM, Goetz CG, Sumis AM, Zhou L, Nguyen DV, Campos L, Howell E, Ludwig A, Greco C, Willemsen R, Hagerman RJ, Hagerman PJ
Hum Mol Genet 2010 Jan 15;19(2):299-312. Epub 2009 Oct 28 doi: 10.1093/hmg/ddp497. PMID: 19864489Free PMC Article

Supplemental Content

Table of contents

    Clinical resources

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    Reviews

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