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Paper Details

Expanding the phenotypic spectrum of ARCN1-related syndrome.
Genet Med
3
2022
ARCN1, ARCN1 variants, ARCN1-related syndrome, Developmental delay, Intrauterine growth restriction, Patients, cataracts, developmental delay, embryonic lethal syndrome, giant cell hepatitis, glycosylation abnormalities, hepatoblastoma, intellectual disability, intrauterine growth restriction, liver dysfunction, microcephaly, micrognathia, patient, patients, prematurity, short, short stature
Author NameAffiliation
Dong LiCenter for Applied Genomics, The Children's Hospital of Philadelphia
Pierre RussoThe Children's Hospital of Philadelphia
Jennifer A SullivanDuke University Medical Center, Duke University School of Medicine
Vandana ShashiDuke University Medical Center, Duke University School of Medicine
Hakon HakonarsonCenter for Applied Genomics, The Children's Hospital of Philadelphia
Hakon HakonarsonCenter for Applied Genomics, The Children's Hospital of Philadelphia
Thorsten MarquardtUniversity Hospital of Muenster
Andrew C EdmondsonThe Children's Hospital of Philadelphia
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Release 1.2