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Article

ADAMTSL4-associated isolated ectopia lentis: Further patients, novel mutations and a detailed phenotype description.

American journal of medical genetics. Part A - 1 Oct 2015

Neuhann Teresa M, Stegerer Annette, Riess Angelika, Blair Edward, Martin Thomas, Wieser Stefanie, Kläs Rüdiger, Bouman Arjan, Kuechler Alma, Rittinger Olaf

Abstract excerpt

ADAMTSL4 mutations seem to be the most common cause of isolated ectoplia lentis (EL) and thus are important concerning the differential diagnosis of connective tissue syndromes with EL as main feature. In this study, we describe an additional cohort of patients with apparently isolated EL. All underwent a detailed clinical exam with cardiac evaluation combined with ADAMTSL4 mutation analysis. Mutations were...

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Source

Identifiers

PMID: 25975359
DOI: 10.1002/ajmg.a.37157

Genes

ADAMTSL4

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