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Infantile systemic Hyalinosis in a 6-month-old male: identification of homozygous ANTXR2 gene mutation.

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第一作者： Fereshteh,Moshfegh

第一单位： Pediatric Intensive Care Unit, Department of Pediatrics, Ali Asghar Children Hospital, Iran University of Medical Sciences, Tehran, Iran.

作者： Fereshteh,Moshfegh ^[1] ; Zahra,Hosseinzade ^[1] ; Mohammad,Javanbakht ^[2] ; Asma,Javid ^[1] ; Mahsa,Mozaffari ^[3]

作者单位： Pediatric Intensive Care Unit, Department of Pediatrics, Ali Asghar Children Hospital, Iran University of Medical Sciences, Tehran, Iran. ^[1] Nephrology and Urology Research Center, Clinical Science Institute, Baqiyatallah University of Medical Sciences, Sheykh Bahayi st, MollaSadra st, Vanak Square, Tehran, Iran. ^[2] Department of Pediatrics, Ali Asghar Children Hospital, Iran University of Medical Sciences, Tehran, Iran. ^[3]

关键词 ANTXR2 mutation case report clinical presentation genetic disorder infantile systemic hyalinosis

DOI 10.1093/omcr/omaf091

PMID 40979812

发布时间 2025-09-29

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Infantile systemic Hyalinosis in a 6-month-old male: identification of homozygous ANTXR2 gene mutation.

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Infantile systemic Hyalinosis in a 6-month-old male: identification of homozygous ANTXR2 gene mutation.

Oxford medical case reports

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