“Lowe syndrome: A particularly severe phenotype without clinical kidney involvement”-Reference-Cited by-同舟云学术

“Lowe syndrome: A particularly severe phenotype without clinical kidney involvement”

Published:2017-12-11 Issue:2 Volume:176 Page:460-464
ISSN:1552-4825
Container-title:American Journal of Medical Genetics Part A
language:en
Short-container-title:Am J Med Genet

Author:

Abdalla Ebtesam¹,El‐Beheiry Ahmed²,Dieterich Klaus³^ORCID,Thevenon Julien³,Fauré Julien⁴⁵,Rendu John⁴⁵^ORCID

Affiliation:

1. Department of Human GeneticsMedical Research InstituteAlexandria UniversityAlexandriaEgypt

2. Department of RadiologyAlexandria Faculty of MedicineAlexandria UniversityAlexandriaEgypt

3. Département de Génétique et ProcréationCHU Grenoble AlpesUniversité Grenoble AlpesGrenobleFrance

4. Département de Biochimie Pharmacologie ToxicologieBiochimie et Génétique MoléculaireCentre Hospitalier Universitaire Grenoble AlpesUniversité Grenoble AlpesGrenobleFrance

5. Grenoble Institut des NeurosciencesInserm U1216–Eq. 4 C‐MyPathLaTroncheFrance

Publisher

Wiley

Subject

Genetics(clinical),Genetics

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1002/ajmg.a.38572

Reference26 articles.

1. Predicting Functional Effect of Human Missense Mutations Using PolyPhen‐2

2. Renal Phenotype in Lowe Syndrome: A Selective Proximal Tubular Dysfunction

3. Dent-2 Disease: A Mild Variant of Lowe Syndrome

4. The oculocerebrorenal syndrome of Lowe: an update

5. Clinical and Laboratory Findings in the Oculocerebrorenal Syndrome of Lowe, with Special Reference to Growth and Renal Function

Cited by 4 articles. 订阅此论文施引文献订阅此论文施引文献，注册后可以免费订阅5篇论文的施引文献，订阅后可以查看论文全部施引文献

1. Dent-2 disease with a Bartter-like phenotype caused by the Asp631Glu mutation in the OCRL gene;BMC Nephrology;2022-05-12

2. OCRL regulates lysosome positioning and mTORC1 activity through SSX2IP‐mediated microtubule anchoring;EMBO reports;2021-05-13

3. Novel mutation in OCRL leading to a severe form of Lowe syndrome;International Journal of Ophthalmology;2019-07-18

4. Lowe syndrome with extremely short stature: growth hormone deficiency may be the pathogeny;Growth Factors;2019-07-04