COG6-CDG: Expanding the Phenotype with emphasis on glycosylation defects involved in the causation of Male Disorders of Sex Development

Hanna Mandel1, Nehama Cohen Kfir1,2, Ayalla Fedida1,2, Efrat Shuster Biton1, Marwan Odeh3, Limor Kalfon1, Shani Ben Harouch1, Vered Sheffer Fleischer4, Yoav Hoffman5, Yael Goldberg6, April Dinwiddie7, Elena Dumin8, Ayelet Eran9, Liat Apel-Sarid 10, Dov Tiosano11, Tzipora C Falik-Zaccai1,2.
  1. Institute of Human Genetics, Galilee Medical Center, Nahariya, Israel.
  2. Azrieli Faculty of Medicine, Bar-Ilan University, Safed, Israel.
  3. Ultra-Sound Unit, Galilee Medical Center, Nahariya, Israel.
  4. NICU, Galilee Medical Center, Nahariya, Israel.
  5. PICU, Galilee Medical Center, Nahariya, Israel.
  6. Ultrasound Unit, Carmel Medical Center, Haifa, Israel.
  7. Center for Genomics and Transcriptomics (CeGaT) GmbH and Practice for Human Genetics, Paul-Ehrlich-Straße 23, 72076, Tübingen, Germany.
  8. Clinical Biochemistry Laboratory, Rambam Health Care Campus, Haifa, Israel.
  9. Neuroradiology Unit, Radiology Department, Rambam Health Care Campus, Haifa, Israel.
  10. Department of Pathology, Galilee Medical Center, Nahariya, Israel.
  11. Pediatric Endocrinology Department, Rambam Health Care Campus, Haifa, Israel.