Autor:	D B, Schowalter, R A, Pagon, R E, Kalina, R, McDonald
Rok vydání:	1997
Předmět:	Male Proteinuria Adolescent Face Hearing Loss Sensorineural Retinal Detachment Humans Abnormalities Multiple Syndrome
Zdroj:	American journal of medical genetics. 69(1)
ISSN:	0148-7299
Popis:	We report on an 11-year-old boy with distinct facial anomalies, iris coloboma, iris hypoplasia, cataract, high myopia, retinal detachment, moderate sensorineural hearing loss, and proteinuria. He appears to have the facio-oculo-acoustico-renal (FOAR) syndrome, a rare familial disorder reported only 4 times previously. In contrast to the other patients, he has normal intellect.
Databáze:	OpenAIRE
Externí odkaz:	https://explore.openaire.eu/search/publication?articleId=pmid________::8dd056405f613c6b215033c6e07a5932 https://pubmed.ncbi.nlm.nih.gov/9066882 Zobrazit plný text záznamu Plný text