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Homozygosity for a hypomorphic mutation in frizzled class receptor 5 causes syndromic ocular coloboma with microcornea in humans.

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Title: Homozygosity for a hypomorphic mutation in frizzled class receptor 5 causes syndromic ocular coloboma with microcornea in humans.
Authors: Cortés-González, Vianney1,2 (AUTHOR), Rodriguez-Morales, Miguel1,2 (AUTHOR), Ataliotis, Paris3 (AUTHOR), Mayer, Claudine4,5 (AUTHOR), Plaisancié, Julie6,7 (AUTHOR), Chassaing, Nicolas6,7 (AUTHOR), Lee, Hane8 (AUTHOR), Rozet, Jean-Michel9 (AUTHOR), Cavodeassi, Florencia3 (AUTHOR) fcavodea@sgul.ac.uk, Fares Taie, Lucas9 (AUTHOR) lucas.fares-taie@inserm.fr
Source: Human Genetics. Dec2024, Vol. 143 Issue 12, p1509-1521. 13p.
Database: Academic Search Ultimate
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Description
ISSN:03406717
DOI:10.1007/s00439-024-02712-y