How many phenotypes for the FBXO11 related disease? Report on a new patient with a tricho-rhino-phalangeal like phenotype-Reference-Cited by-同舟云学术

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How many phenotypes for the FBXO11 related disease? Report on a new patient with a tricho-rhino-phalangeal like phenotype

Published:2024-06 Issue: Volume:69 Page:104944
ISSN:1769-7212
Container-title:European Journal of Medical Genetics
language:en
Short-container-title:European Journal of Medical Genetics

Author:

Mégarbané Andre^ORCID,Mehawej Cybel,Mahfoud Daniel,Chouery Eliane,Devriendt Koenraad,Hijazi Mariam,Ryu Seung W.,Kim JiHye,McNeill Alisdair

Publisher

Elsevier BV

Reference14 articles.

1. Snail1 controls bone mass by regulating Runx2 and VDR expression during osteoblast differentiation;De Frutos;EMBO J.,2009

2. De novo FBXO11 mutations are associated with intellectual disability and behavioural anomalies;Fritzen;Hum. Genet.,2018

3. De novo missense variants in FBXO11 alter its protein expression and subcellular localization;Gregor;Hum. Mol. Genet.,2022

4. De novo variants in the F-box protein FBXO11 in 20 individuals with a variable neurodevelopmental disorder;Gregor;Am. J. Hum. Genet.,2018

5. The role of VIT1/FBXO11 in the regulation of apoptosis and tyrosinase export from endoplasmic reticulum in cultured melanocytes;Guan;Int. J. Mol. Med.,2010

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