{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,4,4]],"date-time":"2026-04-04T13:08:13Z","timestamp":1775308093252,"version":"3.50.1"},"reference-count":14,"publisher":"Wiley","issue":"4","license":[{"start":{"date-parts":[[2022,1,6]],"date-time":"2022-01-06T00:00:00Z","timestamp":1641427200000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["American J of Med Genetics Pt A"],"published-print":{"date-parts":[[2022,4]]},"abstract":"Abstract<\/jats:title>Biallelic IMPAD1<\/jats:italic><\/jats:styled-content> pathogenic variants leads to deficiency of GPAPP<\/jats:styled-content> (Golgi 3\u2010prime phosphoadenosine 5\u2010prime phosphate 3\u2010prime phosphatase) protein and clinically causes chondrodysplasia, which is characterized by short stature with short limbs, craniofacial malformations, cleft palate, hand and foot anomalies, and various radiographic skeletal manifestations. Here we describe prenatal presentation of GPAPP<\/jats:styled-content> deficiency caused by novel biallelic pathogenic variants, 2 base pair duplication in exon 2 of IMAPD1<\/jats:styled-content> gene in a patient of Asian\u2010Indian<\/jats:styled-content> origin. Further we report on diagnostic clues of prenatal presentation of GPAPP<\/jats:styled-content> deficiency through ultrasonography, fetal MRI,<\/jats:styled-content> and postmortem findings. We also provide evidence of pathophysiology of underlying GPAPP<\/jats:styled-content> deficiency in the form of disorganization and dysplastic chondrocytes and reduced sulfation of glycoproteins through histopathology of cartilage similar to that described in mice IMPAD1<\/jats:italic><\/jats:styled-content> homozygous mutant model.<\/jats:p>","DOI":"10.1002\/ajmg.a.62622","type":"journal-article","created":{"date-parts":[[2022,1,6]],"date-time":"2022-01-06T10:00:01Z","timestamp":1641463201000},"page":"1287-1292","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":2,"title":["Fetal presentation of chondrodysplasia with joint dislocations, GPAPP<\/scp> type, caused by novel biallelic IMPAD1<\/i><\/scp> variants"],"prefix":"10.1002","volume":"188","author":[{"given":"Vijaya Sree","family":"Venkatapuram","sequence":"first","affiliation":[{"name":"Department of Medical Genetics Nizam's Institute of Medical Sciences Hyderabad 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