Skip to content
DraconiticResearch
Search Sources API
203,234 studies31 sourcesUpdated 4 min ago
Peer-reviewedCC BYMedicine

Two siblings presented with spastic paraplegia and psychomotor retardation with or without seizures with HACE1 variants : A case report and literature review

  1. 1Children’s Medical Center, Peking University First Hospital, Beijing, China.

Related

  1. Waldenstrom's macroglobulinemia in siblings: a single institutional experience with 10 cases at 25 years and a review of the literature.
    Lingling Wang, Yongfen Huang, Hui Chen +4
    Annals of hematologyPeer-reviewedCC BY-NC-NDFull textHuman geneticsEurope PMCDOAJ
  2. Wes of a Consanguineous Family with Schizophrenia and Mental Retardation in North Algeria.
    Aïcha Dahdouh, M. Guipponi, J. Prados +1
    European PsychiatryPeer-reviewedLicence not stated2 citedGeneral biologyPsychiatry & mental healthHAL
  3. Coexisting adrenal hemangioma and aldosterone-producing micronodule presented as adrenal incidentaloma
    JCEM case reportsPeer-reviewedCC BY-NC-NDFull textEndocrinology & metabolismEurope PMC
  4. Severe Invasive Pneumococcal Disease in Two Siblings: Austrian Syndrome and Infected Aortic Aneurysm
    Carolina V. Monteiro, Catarina Pestana Santos, Miguel Silva +4
    Infectious disease reportsPeer-reviewedCC BYFull textGeneral medicineEurope PMC
  5. Cyclopurine DNA lesions and repair in individuals with bipolar disorder and their unaffected siblings
    Hidayet Ece Arat Çelik, Gamze Tuna, İzel Cemre Akşahin +10
    Translational PsychiatryPeer-reviewedCC BY-NC-ND 4.0Full textPsychiatry & mental healthCrossref
BibTeX
@article{deng2026siblings,
  title = {{Two siblings presented with spastic paraplegia and psychomotor retardation with or without seizures with HACE1 variants : A case report and literature review}},
  author = {Jiong Deng and Yuheng Gao},
  journal = {Medicine},
  year = {2026},
  month = oct,
  url = {https://europepmc.org/article/PMC/PMC13657485},
  note = {CC BY},
}
RIS
TY  - JOUR
TI  - Two siblings presented with spastic paraplegia and psychomotor retardation with or without seizures with HACE1 variants : A case report and literature review
AU  - Jiong Deng
AU  - Yuheng Gao
PY  - 2026
DA  - 2026/10/09
JO  - Medicine
UR  - https://europepmc.org/article/PMC/PMC13657485
SN  - 0304-5412
SN  - 1536-5964
ER  -