{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,6,4]],"date-time":"2026-06-04T09:28:21Z","timestamp":1780565301030,"version":"3.54.1"},"reference-count":6,"publisher":"Wiley","issue":"4","license":[{"start":{"date-parts":[[2021,1,1]],"date-time":"2021-01-01T00:00:00Z","timestamp":1609459200000},"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":[[2021,4]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>Ayme Gripp syndrome (OMIM#601088) is a multisystem disorder caused by heterozygous variation in the <jats:italic>MAF<\/jats:italic> (OMIM*177075). The typical phenotype comprises a tetralogy of congenital cataract, sensory neural hearing loss, a characteristic facial appearance along with neurodevelopment abnormalities. Exact prevalence estimates are unknown. Only 21 individuals representing 19 families have been reported in the literature till date. To the best of our knowledge, this is the first detailed case report of a boy with Ayme Gripp syndrome from our country. Although he had multiple typical features of the syndrome along with a known pathogenic variation in the <jats:italic>MAF<\/jats:italic>, cataract was not observed in him at the age of seven years.<\/jats:p>","DOI":"10.1002\/ajmg.a.62053","type":"journal-article","created":{"date-parts":[[2021,1,1]],"date-time":"2021-01-01T13:11:46Z","timestamp":1609506706000},"page":"1312-1316","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":5,"title":["Ayme gripp syndrome in an Indian patient"],"prefix":"10.1002","volume":"185","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-0080-2172","authenticated-orcid":false,"given":"Chakshu","family":"Chaudhry","sequence":"first","affiliation":[{"name":"Genetic and Metabolic Unit, Department of Pediatrics, Advanced Pediatric Centre Post Graduate Institute of Medical Education and Research (PGIMER)  Chandigarh India"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Parminder","family":"Kaur","sequence":"additional","affiliation":[{"name":"Genetic and Metabolic Unit, Department of Pediatrics, Advanced Pediatric Centre Post Graduate Institute of Medical Education and Research (PGIMER)  Chandigarh India"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Priyanka","family":"Srivastava","sequence":"additional","affiliation":[{"name":"Genetic and Metabolic Unit, Department of Pediatrics, Advanced Pediatric Centre Post Graduate Institute of Medical Education and Research (PGIMER)  Chandigarh India"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-5307-5677","authenticated-orcid":false,"given":"Anupriya","family":"Kaur","sequence":"additional","affiliation":[{"name":"Genetic and Metabolic Unit, Department of Pediatrics, Advanced Pediatric Centre Post Graduate Institute of Medical Education and Research (PGIMER)  Chandigarh India"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2021,1]]},"reference":[{"key":"e_1_2_8_2_1","volume-title":"GeneReviews\u00ae","author":"Amudhavalli S. 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