Year: 2025
Type: article
Study design: Case Report
Abstract: Infantile systemic hyalinosis should be suspected in infants with contractures, skin changes, and diarrhea in consanguineous families. Early recognition allows timely genetic testing, supportive care, and counseling, improving family outcomes despite poor prognosis.
Source: Clinical Case Reports
DOI: 10.1002/ccr3.71126
Institutions: Alyn Hospital, An-Najah National University
Language: English
Subfield: Genetics
Domain: Life Sciences
Open Access status: gold
Estimated APC paid: $1,820
OpenAlex ID: W4414775591