Phenotype from SAMD9 Mutation at 7p21.2 Appears Attenuated by Novel Compound Heterozygous Variants at RUNX2 and SALL1

Sterile α motif domain-containing protein 9 (SAMD9) is a regulatory protein centrally involved in cell proliferation and apoptosis. Mapped to 7p21.2, variants in SAMD9 have been reported in <50 pediatric cases worldwide, typically with early lethality. Germline gain-of-function SAMD9 variants are...

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Bibliographic Details
Main Authors: E. Scott Sills, Samuel H. Wood
Format: Article
Language:English
Published: Georg Thieme Verlag KG 2022-06-01
Series:Global Medical Genetics
Subjects:
Online Access:http://www.thieme-connect.de/DOI/DOI?10.1055/s-0041-1740018