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Dyskeratosis congenita, autosomal recessive 7(DKCB7)

MedGen UID:
903803
•Concept ID:
C4225283
•
Disease or Syndrome
Synonym: DKCB7
 
Monarch Initiative: MONDO:0800370
OMIM®: 609377; 616553

Recent clinical studies

Etiology

Disease progression and clinical outcomes in telomere biology disorders.
Niewisch MR, Giri N, McReynolds LJ, Alsaggaf R, Bhala S, Alter BP, Savage SA
Blood 2022 Mar 24;139(12):1807-1819. doi: 10.1182/blood.2021013523. PMID: 34852175Free PMC Article

Diagnosis

Disease progression and clinical outcomes in telomere biology disorders.
Niewisch MR, Giri N, McReynolds LJ, Alsaggaf R, Bhala S, Alter BP, Savage SA
Blood 2022 Mar 24;139(12):1807-1819. doi: 10.1182/blood.2021013523. PMID: 34852175Free PMC Article
Kindler's syndrome: a report of five cases in a family.
Anwar MI, Rashid A, Ghafoor R, Tahir M, Rao SU, Mir F
J Coll Physicians Surg Pak 2014 Oct;24(10):763-5. doi: 10.2014/JCPSP.763765. PMID: 25327923
Enhanced G2 chromatid radiosensitivity in dyskeratosis congenita fibroblasts.
DeBauche DM, Pai GS, Stanley WS
Am J Hum Genet 1990 Feb;46(2):350-7. PMID: 2301400Free PMC Article

Therapy

Disease progression and clinical outcomes in telomere biology disorders.
Niewisch MR, Giri N, McReynolds LJ, Alsaggaf R, Bhala S, Alter BP, Savage SA
Blood 2022 Mar 24;139(12):1807-1819. doi: 10.1182/blood.2021013523. PMID: 34852175Free PMC Article

Clinical prediction guides

Disease progression and clinical outcomes in telomere biology disorders.
Niewisch MR, Giri N, McReynolds LJ, Alsaggaf R, Bhala S, Alter BP, Savage SA
Blood 2022 Mar 24;139(12):1807-1819. doi: 10.1182/blood.2021013523. PMID: 34852175Free PMC Article

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