PMC:1852721 / 36865-37398 JSONTXT

{"project":"2_test","denotations":[{"id":"17357067-2391361-2054052","span":{"begin":170,"end":176},"obj":"2391361"},{"id":"17357067-8406501-2054053","span":{"begin":207,"end":209},"obj":"8406501"}],"text":"A human-interest story in this connection involves the late Robert J. Gorlin (1923–2006) and his son Jed B. Gorlin. Jed cloned the filamin A gene (FLNA [MIM +300017]) in 199032 and mapped it to Xq28 in 1993.33 It was of particular delight to his father when FLNA was found (by others) to be the site of mutations underlying frontometaphyseal dysplasia (FMD [MIM #305620]), otopalatodigital syndrome (OPD1 [MIM #311300]), and several other disorders for which the father had provided definitive clinical descriptions as well as names."}