Article
Elucidating the clinical spectrum and molecular basis of HYAL2 deficiency.
Genetics in medicine : official journal of the American College of Medical Genetics - 1 Mar 2022
Fasham James, Lin Siying, Ghosh Promita, Radio Francesca Clementina, Farrow Emily G, Thiffault Isabelle, Kussman Jennifer, Zhou Dihong, Hemming Rick, Zahka Kenneth, Chioza Barry A, Rawlins Lettie E, Wenger Olivia K, Gunning Adam C, Pizzi Simone, Onesimo Roberta, Zampino Giuseppe, Barker Emily, Osawa Natasha, Rodriguez Megan Christine, Neuhann Teresa M, Zackai Elaine H, Keena Beth, Capasso Jenina, Levin Alex V, Bhoj Elizabeth, Li Dong, Hakonarson Hakon, Wentzensen Ingrid M, Jackson Adam, Chandler Kate E, Coban-Akdemir Zeynep H, Posey Jennifer E, Banka Siddharth, Lupski James R, Sheppard Sarah E, Tartaglia Marco, Triggs-Raine Barbara, Crosby Andrew H, Baple Emma L
Abstract excerpt
PURPOSE: We previously defined biallelic HYAL2 variants causing a novel disorder in 2 families, involving orofacial clefting, facial dysmorphism, congenital heart disease, and ocular abnormalities, with Hyal2 knockout mice displaying similar phenotypes. In this study, we better define the phenotype and pathologic disease mechanism. METHODS: Clinical and genomic investigations were undertaken alongside molecular...
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