Skip to content
DraconiticResearch
Search Sources API
197,768 studies31 sourcesUpdated 6 min ago
PreprintAll rights reservedmedRxiv

A KIAA0586 c.1815G>A Founder Allele Associated with Short-Rib Polydactyly Syndrome Type IV in Romani Families

  • R. Kellermayer1
  • M. Farooq
  • J. Bene
  • N. Elcioglu
  • R. A. Harris
  • R. G. Szigeti
  • A. Teszas
  • N. Tommerup
  • L. A. Larsen
  • B. Melegh
  • K. Hadzsiev
  1. 1Baylor College of Medicine
Read full textPDFDOICite

Related

  1. Identification of a putative founder variant in SLC30A10 associated with hypermanganesemia with dystonia 1 in Iranian patients: a case series and literature review.
    Atieh Eslahi, Farzaneh Alizadeh, Arash Salmaninejad +11
    BMC medical genomicsPeer-reviewedCC BY-NC-NDFull textNeurologyEurope PMCDOAJ
  2. OP–225 Beyond extra digits: clinical characteristics and surgical management of polydactyly
    Murat Yüncü, Mehmet Barış Ertan, Emre Mücahit Kartal
    BMJ Paediatrics OpenPeer-reviewedCC BYObstetrics, gynaecology & paediatricsDOAJ
  3. Complete chromosome 21 centromere sequencing of families with Down syndrome
    Francesco Kumara Mastrorosa, Alessia Daponte, Luciana de Gennaro +25
    The American Journal of Human GeneticsPeer-reviewedCC BY17 citedEpidemiology & public healthOpenAlex
  4. Postaxial Polydactyly Type B in Infants: A Narrative Review of Outcomes and Family-Centered Care.
    Stephen J Gauta, Bryan Bartnick, Luis P Luy +2
    CureusPeer-reviewedCC BYFull textPhysiologyObstetrics, gynaecology & paediatricsEurope PMCPMC
  5. In Loving Memory of Dr Ravinder Kumar Bali Founder Member, Founder President & President Emeritus Indian Association of Public Health Dentistry
    Journal of Indian Association of Public Health DentistryPeer-reviewedCC BY-NC-SAFull textGeneral medicineDOAJ

Cite

BibTeXRIS
BibTeX
@misc{kellermayer2026kiaa0586,
  title = {{A KIAA0586 c.1815G>A Founder Allele Associated with Short-Rib Polydactyly Syndrome Type IV in Romani Families}},
  author = {R. Kellermayer and M. Farooq and J. Bene and N. Elcioglu and R. A. Harris and R. G. Szigeti and A. Teszas and N. Tommerup and L. A. Larsen and B. Melegh and K. Hadzsiev},
  howpublished = {medRxiv},
  year = {2026},
  month = sep,
  doi = {10.64898/2026.09.29.26363928},
  url = {https://www.medrxiv.org/content/10.64898/2026.09.29.26363928v1},
}
RIS
TY  - UNPB
TI  - A KIAA0586 c.1815G>A Founder Allele Associated with Short-Rib Polydactyly Syndrome Type IV in Romani Families
AU  - R. Kellermayer
AU  - M. Farooq
AU  - J. Bene
AU  - N. Elcioglu
AU  - R. A. Harris
AU  - R. G. Szigeti
AU  - A. Teszas
AU  - N. Tommerup
AU  - L. A. Larsen
AU  - B. Melegh
AU  - K. Hadzsiev
PY  - 2026
DA  - 2026/09/29
PB  - medRxiv
DO  - 10.64898/2026.09.29.26363928
UR  - https://www.medrxiv.org/content/10.64898/2026.09.29.26363928v1
ER  -