Phenotype from SAMD9 Mutation at 7p21.1 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 7p21.1, 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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Autores principales: E. Scott Sills, Samuel H. Wood
Formato: article
Lenguaje:EN
Publicado: Georg Thieme Verlag KG 2021
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Acceso en línea:https://doaj.org/article/637ec5b7a7504896a1d973af0cb12458
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