In:
Prenatal Diagnosis, Wiley, Vol. 42, No. 5 ( 2022-05), p. 589-600
Abstract:
What's already known about this topic? Raine syndrome is a very rare autosomal recessive disorder (1/1,000,000) characterized by bone dysplasia with around 50 cases described in the literature. What does this study add? We present a case of Raine syndrome caused by a novel pathogenic variant in the FAM20 C gene and discuss the contribution of different imaging modalities in the diagnosis of this disease.
Type of Medium:
Online Resource
ISSN:
0197-3851
,
1097-0223
Language:
English
Publisher:
Wiley
Publication Date:
2022
detail.hit.zdb_id:
1491217-X
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