Novel pathogenic variants and quantitative phenotypic analyses of Robinow syndrome: WNT signaling perturbation and phenotypic variability-Reference-Cited by-同舟云学术

Novel pathogenic variants and quantitative phenotypic analyses of Robinow syndrome: WNT signaling perturbation and phenotypic variability

Published:2022-01 Issue:1 Volume:3 Page:100074
ISSN:2666-2477
Container-title:Human Genetics and Genomics Advances
language:en
Short-container-title:Human Genetics and Genomics Advances

Author:

Zhang Chaofan,Jolly Angad,Shayota Brian J.,Mazzeu Juliana F.,Du Haowei,Dawood Moez,Soper Patricia Celestino,Ramalho de Lima Ariadne,Ferreira Bárbara Merfort,Coban-Akdemir Zeynep,White Janson,Shears Deborah,Thomson Fraser Robert,Douglas Sarah Louise,Wainwright Andrew,Bailey Kathryn,Wordsworth Paul,Oldridge Mike,Lester Tracy,Calder Alistair D.,Dumic Katja,Banka Siddharth,Donnai Dian,Jhangiani Shalini N.,Potocki Lorraine,Chung Wendy K.,Mora Sara,Northrup Hope,Ashfaq Myla,Rosenfeld Jill A.,Mason Kati,Pollack Lynda C.,McConkie-Rosell Allyn,Kelly Wei,McDonald Marie,Hauser Natalie S.,Leahy Peter,Powell Cynthia M.,Boy Raquel,Honjo Rachel Sayuri,Kok Fernando,Martelli Lucia R.,Filho Vicente Odone,Genomics England Research Consortium ,Muzny Donna M.,Gibbs Richard A.,Posey Jennifer E.,Liu Pengfei,Lupski James R.,Sutton V. Reid,Carvalho Claudia M.B.

Funder

National Institutes of Health

Publisher

Elsevier BV

Subject

Genetics (clinical),Molecular Medicine

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