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Article

Expanding Phenotype of Schimke Immuno-Osseous Dysplasia: Congenital Anomalies of the Kidneys and of the Urinary Tract and Alteration of NK Cells.

International journal of molecular sciences - 15 Nov 2020

Bertulli Cristina, Marzollo Antonio, Doria Margherita, Di Cesare Silvia, La Scola Claudio, Mencarelli Francesca, Pasini Andrea, Affinita Maria Carmen, Vidal Enrico, Magini Pamela, Dimartino Paola, Masetti Riccardo, Greco Laura, Palomba Patrizia, Conti Francesca, Pession Andra

Abstract excerpt

Schimke immuno-osseous dysplasia (SIOD) is a rare multisystemic disorder with a variable clinical expressivity caused by biallelic variants in SMARCAL1. A phenotype-genotype correlation has been attempted and variable expressivity of biallelic SMARCAL1 variants may be associated with environmental and genetic disturbances of gene expression. We describe two siblings born from consanguineous parents with a...

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Source

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Identifiers

PMID: 33203071
DOI: 10.3390/ijms21228604
PMCID: PMC7696905

Genes

SMARCAL1

Variants

Provenance

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Expanding Phenotype of Schimke Immuno-Osseous Dysplasia: Congenital Anomalies of the Kidneys and of the Urinary Tract and Alteration of NK Cells.PMID 33203071Read ↗

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