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Peer-reviewedCC BYBMJ Paediatrics Open

PP–019 Expanding the b3galt6-related al-gazali/SEMDJL1 spectrum: progressive obstructive hydrocephalus, corpus callosum dysgenesis, and a novel homozygous C.638C>G variant in early infancy

  • Duygu Çetinkaya1
  • Abdulsamet Güneş2
  1. 1Başakşehir Çam and Sakura City Hospital
  2. 2University of Health Sciences, Başakşehir Çam and Sakura City Hospital, Department of Pediatrics, Istanbul, Türkiye
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Cite

BibTeXRIS
BibTeX
@article{cetinkaya2026pp019,
  title = {{PP–019 Expanding the b3galt6-related al-gazali/SEMDJL1 spectrum: progressive obstructive hydrocephalus, corpus callosum dysgenesis, and a novel homozygous C.638C>G variant in early infancy}},
  author = {Duygu Çetinkaya and Abdulsamet Güneş},
  journal = {BMJ Paediatrics Open},
  year = {2026},
  month = oct,
  doi = {10.1136/bmjpo-2026-epa-unepsa.270},
  url = {https://doi.org/10.1136/bmjpo-2026-epa-unepsa.270},
  note = {CC BY},
}
RIS
TY  - JOUR
TI  - PP–019 Expanding the b3galt6-related al-gazali/SEMDJL1 spectrum: progressive obstructive hydrocephalus, corpus callosum dysgenesis, and a novel homozygous C.638C>G variant in early infancy
AU  - Duygu Çetinkaya
AU  - Abdulsamet Güneş
PY  - 2026
DA  - 2026/10/01
JO  - BMJ Paediatrics Open
DO  - 10.1136/bmjpo-2026-epa-unepsa.270
UR  - https://doi.org/10.1136/bmjpo-2026-epa-unepsa.270
SN  - 2399-9772
ER  -